Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development
• Three novel HSD17B3 mutations were identified. • “Apparent homozygosity” occurred in a patient with non-consanguineous parents. • Intragenic deletion happened in a patient with monoallelic mutation.
Gespeichert in:
| Autor*in: |
Yu, Bingqing [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2017 |
|---|
| Schlagwörter: |
|---|
| Umfang: |
6 |
|---|
| Übergeordnetes Werk: |
Enthalten in: Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome - Caraballo, Roberto ELSEVIER, 2019, official publication of the International Study Group for Steroid Hormones, Amsterdam [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:126 ; year:2017 ; pages:1-6 ; extent:6 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.steroids.2017.07.009 |
|---|
| Katalog-ID: |
ELV040230163 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | ELV040230163 | ||
| 003 | DE-627 | ||
| 005 | 20230624071749.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 180603s2017 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.steroids.2017.07.009 |2 doi | |
| 028 | 5 | 2 | |a GBVA2017001000008.pica |
| 035 | |a (DE-627)ELV040230163 | ||
| 035 | |a (ELSEVIER)S0039-128X(17)30131-9 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 082 | 0 | |a 610 |a 540 | |
| 082 | 0 | 4 | |a 610 |q DE-600 |
| 082 | 0 | 4 | |a 540 |q DE-600 |
| 082 | 0 | 4 | |a 610 |q VZ |
| 084 | |a 44.90 |2 bkl | ||
| 100 | 1 | |a Yu, Bingqing |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development |
| 264 | 1 | |c 2017 | |
| 300 | |a 6 | ||
| 336 | |a nicht spezifiziert |b zzz |2 rdacontent | ||
| 337 | |a nicht spezifiziert |b z |2 rdamedia | ||
| 338 | |a nicht spezifiziert |b zu |2 rdacarrier | ||
| 520 | |a • Three novel HSD17B3 mutations were identified. • “Apparent homozygosity” occurred in a patient with non-consanguineous parents. • Intragenic deletion happened in a patient with monoallelic mutation. | ||
| 650 | 7 | |a HSD17B3 gene mutations |2 Elsevier | |
| 650 | 7 | |a 46,XY Disorders of Sex Development |2 Elsevier | |
| 650 | 7 | |a 17β-Hydroxysteroid dehydrogenase type 3 deficiency |2 Elsevier | |
| 700 | 1 | |a Liu, Zhaoxiang |4 oth | |
| 700 | 1 | |a Mao, Jiangfeng |4 oth | |
| 700 | 1 | |a Wang, Xi |4 oth | |
| 700 | 1 | |a Zheng, Junjie |4 oth | |
| 700 | 1 | |a Xiong, Shuyu |4 oth | |
| 700 | 1 | |a Cui, Mingxuan |4 oth | |
| 700 | 1 | |a Ma, Wanlu |4 oth | |
| 700 | 1 | |a Huang, Qibin |4 oth | |
| 700 | 1 | |a Xu, Hongli |4 oth | |
| 700 | 1 | |a Huang, Bingkun |4 oth | |
| 700 | 1 | |a Nie, Min |4 oth | |
| 700 | 1 | |a Wu, Xueyan |4 oth | |
| 773 | 0 | 8 | |i Enthalten in |n Elsevier Science |a Caraballo, Roberto ELSEVIER |t Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome |d 2019 |d official publication of the International Study Group for Steroid Hormones |g Amsterdam [u.a.] |w (DE-627)ELV002129892 |
| 773 | 1 | 8 | |g volume:126 |g year:2017 |g pages:1-6 |g extent:6 |
| 856 | 4 | 0 | |u https://doi.org/10.1016/j.steroids.2017.07.009 |3 Volltext |
| 912 | |a GBV_USEFLAG_U | ||
| 912 | |a GBV_ELV | ||
| 912 | |a SYSFLAG_U | ||
| 912 | |a SSG-OLC-PHA | ||
| 936 | b | k | |a 44.90 |j Neurologie |q VZ |
| 951 | |a AR | ||
| 952 | |d 126 |j 2017 |h 1-6 |g 6 | ||
| 953 | |2 045F |a 610 | ||
| author_variant |
b y by |
|---|---|
| matchkey_str |
yubingqingliuzhaoxiangmaojiangfengwangxi:2017----:oemttosfs1bitrehnsptetwt4xds |
| hierarchy_sort_str |
2017 |
| bklnumber |
44.90 |
| publishDate |
2017 |
| allfields |
10.1016/j.steroids.2017.07.009 doi GBVA2017001000008.pica (DE-627)ELV040230163 (ELSEVIER)S0039-128X(17)30131-9 DE-627 ger DE-627 rakwb eng 610 540 610 DE-600 540 DE-600 610 VZ 44.90 bkl Yu, Bingqing verfasserin aut Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development 2017 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier • Three novel HSD17B3 mutations were identified. • “Apparent homozygosity” occurred in a patient with non-consanguineous parents. • Intragenic deletion happened in a patient with monoallelic mutation. HSD17B3 gene mutations Elsevier 46,XY Disorders of Sex Development Elsevier 17β-Hydroxysteroid dehydrogenase type 3 deficiency Elsevier Liu, Zhaoxiang oth Mao, Jiangfeng oth Wang, Xi oth Zheng, Junjie oth Xiong, Shuyu oth Cui, Mingxuan oth Ma, Wanlu oth Huang, Qibin oth Xu, Hongli oth Huang, Bingkun oth Nie, Min oth Wu, Xueyan oth Enthalten in Elsevier Science Caraballo, Roberto ELSEVIER Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome 2019 official publication of the International Study Group for Steroid Hormones Amsterdam [u.a.] (DE-627)ELV002129892 volume:126 year:2017 pages:1-6 extent:6 https://doi.org/10.1016/j.steroids.2017.07.009 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.90 Neurologie VZ AR 126 2017 1-6 6 045F 610 |
| spelling |
10.1016/j.steroids.2017.07.009 doi GBVA2017001000008.pica (DE-627)ELV040230163 (ELSEVIER)S0039-128X(17)30131-9 DE-627 ger DE-627 rakwb eng 610 540 610 DE-600 540 DE-600 610 VZ 44.90 bkl Yu, Bingqing verfasserin aut Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development 2017 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier • Three novel HSD17B3 mutations were identified. • “Apparent homozygosity” occurred in a patient with non-consanguineous parents. • Intragenic deletion happened in a patient with monoallelic mutation. HSD17B3 gene mutations Elsevier 46,XY Disorders of Sex Development Elsevier 17β-Hydroxysteroid dehydrogenase type 3 deficiency Elsevier Liu, Zhaoxiang oth Mao, Jiangfeng oth Wang, Xi oth Zheng, Junjie oth Xiong, Shuyu oth Cui, Mingxuan oth Ma, Wanlu oth Huang, Qibin oth Xu, Hongli oth Huang, Bingkun oth Nie, Min oth Wu, Xueyan oth Enthalten in Elsevier Science Caraballo, Roberto ELSEVIER Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome 2019 official publication of the International Study Group for Steroid Hormones Amsterdam [u.a.] (DE-627)ELV002129892 volume:126 year:2017 pages:1-6 extent:6 https://doi.org/10.1016/j.steroids.2017.07.009 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.90 Neurologie VZ AR 126 2017 1-6 6 045F 610 |
| allfields_unstemmed |
10.1016/j.steroids.2017.07.009 doi GBVA2017001000008.pica (DE-627)ELV040230163 (ELSEVIER)S0039-128X(17)30131-9 DE-627 ger DE-627 rakwb eng 610 540 610 DE-600 540 DE-600 610 VZ 44.90 bkl Yu, Bingqing verfasserin aut Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development 2017 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier • Three novel HSD17B3 mutations were identified. • “Apparent homozygosity” occurred in a patient with non-consanguineous parents. • Intragenic deletion happened in a patient with monoallelic mutation. HSD17B3 gene mutations Elsevier 46,XY Disorders of Sex Development Elsevier 17β-Hydroxysteroid dehydrogenase type 3 deficiency Elsevier Liu, Zhaoxiang oth Mao, Jiangfeng oth Wang, Xi oth Zheng, Junjie oth Xiong, Shuyu oth Cui, Mingxuan oth Ma, Wanlu oth Huang, Qibin oth Xu, Hongli oth Huang, Bingkun oth Nie, Min oth Wu, Xueyan oth Enthalten in Elsevier Science Caraballo, Roberto ELSEVIER Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome 2019 official publication of the International Study Group for Steroid Hormones Amsterdam [u.a.] (DE-627)ELV002129892 volume:126 year:2017 pages:1-6 extent:6 https://doi.org/10.1016/j.steroids.2017.07.009 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.90 Neurologie VZ AR 126 2017 1-6 6 045F 610 |
| allfieldsGer |
10.1016/j.steroids.2017.07.009 doi GBVA2017001000008.pica (DE-627)ELV040230163 (ELSEVIER)S0039-128X(17)30131-9 DE-627 ger DE-627 rakwb eng 610 540 610 DE-600 540 DE-600 610 VZ 44.90 bkl Yu, Bingqing verfasserin aut Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development 2017 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier • Three novel HSD17B3 mutations were identified. • “Apparent homozygosity” occurred in a patient with non-consanguineous parents. • Intragenic deletion happened in a patient with monoallelic mutation. HSD17B3 gene mutations Elsevier 46,XY Disorders of Sex Development Elsevier 17β-Hydroxysteroid dehydrogenase type 3 deficiency Elsevier Liu, Zhaoxiang oth Mao, Jiangfeng oth Wang, Xi oth Zheng, Junjie oth Xiong, Shuyu oth Cui, Mingxuan oth Ma, Wanlu oth Huang, Qibin oth Xu, Hongli oth Huang, Bingkun oth Nie, Min oth Wu, Xueyan oth Enthalten in Elsevier Science Caraballo, Roberto ELSEVIER Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome 2019 official publication of the International Study Group for Steroid Hormones Amsterdam [u.a.] (DE-627)ELV002129892 volume:126 year:2017 pages:1-6 extent:6 https://doi.org/10.1016/j.steroids.2017.07.009 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.90 Neurologie VZ AR 126 2017 1-6 6 045F 610 |
| allfieldsSound |
10.1016/j.steroids.2017.07.009 doi GBVA2017001000008.pica (DE-627)ELV040230163 (ELSEVIER)S0039-128X(17)30131-9 DE-627 ger DE-627 rakwb eng 610 540 610 DE-600 540 DE-600 610 VZ 44.90 bkl Yu, Bingqing verfasserin aut Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development 2017 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier • Three novel HSD17B3 mutations were identified. • “Apparent homozygosity” occurred in a patient with non-consanguineous parents. • Intragenic deletion happened in a patient with monoallelic mutation. HSD17B3 gene mutations Elsevier 46,XY Disorders of Sex Development Elsevier 17β-Hydroxysteroid dehydrogenase type 3 deficiency Elsevier Liu, Zhaoxiang oth Mao, Jiangfeng oth Wang, Xi oth Zheng, Junjie oth Xiong, Shuyu oth Cui, Mingxuan oth Ma, Wanlu oth Huang, Qibin oth Xu, Hongli oth Huang, Bingkun oth Nie, Min oth Wu, Xueyan oth Enthalten in Elsevier Science Caraballo, Roberto ELSEVIER Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome 2019 official publication of the International Study Group for Steroid Hormones Amsterdam [u.a.] (DE-627)ELV002129892 volume:126 year:2017 pages:1-6 extent:6 https://doi.org/10.1016/j.steroids.2017.07.009 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.90 Neurologie VZ AR 126 2017 1-6 6 045F 610 |
| language |
English |
| source |
Enthalten in Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome Amsterdam [u.a.] volume:126 year:2017 pages:1-6 extent:6 |
| sourceStr |
Enthalten in Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome Amsterdam [u.a.] volume:126 year:2017 pages:1-6 extent:6 |
| format_phy_str_mv |
Article |
| bklname |
Neurologie |
| institution |
findex.gbv.de |
| topic_facet |
HSD17B3 gene mutations 46,XY Disorders of Sex Development 17β-Hydroxysteroid dehydrogenase type 3 deficiency |
| dewey-raw |
610 |
| isfreeaccess_bool |
false |
| container_title |
Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome |
| authorswithroles_txt_mv |
Yu, Bingqing @@aut@@ Liu, Zhaoxiang @@oth@@ Mao, Jiangfeng @@oth@@ Wang, Xi @@oth@@ Zheng, Junjie @@oth@@ Xiong, Shuyu @@oth@@ Cui, Mingxuan @@oth@@ Ma, Wanlu @@oth@@ Huang, Qibin @@oth@@ Xu, Hongli @@oth@@ Huang, Bingkun @@oth@@ Nie, Min @@oth@@ Wu, Xueyan @@oth@@ |
| publishDateDaySort_date |
2017-01-01T00:00:00Z |
| hierarchy_top_id |
ELV002129892 |
| dewey-sort |
3610 |
| id |
ELV040230163 |
| language_de |
englisch |
| fullrecord |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">ELV040230163</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230624071749.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">180603s2017 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.steroids.2017.07.009</subfield><subfield code="2">doi</subfield></datafield><datafield tag="028" ind1="5" ind2="2"><subfield code="a">GBVA2017001000008.pica</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV040230163</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S0039-128X(17)30131-9</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">610</subfield><subfield code="a">540</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">DE-600</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">540</subfield><subfield code="q">DE-600</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.90</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Yu, Bingqing</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2017</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">6</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">• Three novel HSD17B3 mutations were identified. • “Apparent homozygosity” occurred in a patient with non-consanguineous parents. • Intragenic deletion happened in a patient with monoallelic mutation.</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">HSD17B3 gene mutations</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">46,XY Disorders of Sex Development</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">17β-Hydroxysteroid dehydrogenase type 3 deficiency</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Liu, Zhaoxiang</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Mao, Jiangfeng</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Wang, Xi</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Zheng, Junjie</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Xiong, Shuyu</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Cui, Mingxuan</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Ma, Wanlu</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Huang, Qibin</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Xu, Hongli</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Huang, Bingkun</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Nie, Min</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Wu, Xueyan</subfield><subfield code="4">oth</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="n">Elsevier Science</subfield><subfield code="a">Caraballo, Roberto ELSEVIER</subfield><subfield code="t">Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome</subfield><subfield code="d">2019</subfield><subfield code="d">official publication of the International Study Group for Steroid Hormones</subfield><subfield code="g">Amsterdam [u.a.]</subfield><subfield code="w">(DE-627)ELV002129892</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:126</subfield><subfield code="g">year:2017</subfield><subfield code="g">pages:1-6</subfield><subfield code="g">extent:6</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1016/j.steroids.2017.07.009</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ELV</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-PHA</subfield></datafield><datafield tag="936" ind1="b" ind2="k"><subfield code="a">44.90</subfield><subfield code="j">Neurologie</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">126</subfield><subfield code="j">2017</subfield><subfield code="h">1-6</subfield><subfield code="g">6</subfield></datafield><datafield tag="953" ind1=" " ind2=" "><subfield code="2">045F</subfield><subfield code="a">610</subfield></datafield></record></collection>
|
| author |
Yu, Bingqing |
| spellingShingle |
Yu, Bingqing ddc 610 ddc 540 bkl 44.90 Elsevier HSD17B3 gene mutations Elsevier 46,XY Disorders of Sex Development Elsevier 17β-Hydroxysteroid dehydrogenase type 3 deficiency Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development |
| authorStr |
Yu, Bingqing |
| ppnlink_with_tag_str_mv |
@@773@@(DE-627)ELV002129892 |
| format |
electronic Article |
| dewey-ones |
610 - Medicine & health 540 - Chemistry & allied sciences |
| delete_txt_mv |
keep |
| author_role |
aut |
| collection |
elsevier |
| remote_str |
true |
| illustrated |
Not Illustrated |
| topic_title |
610 540 610 DE-600 540 DE-600 610 VZ 44.90 bkl Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development HSD17B3 gene mutations Elsevier 46,XY Disorders of Sex Development Elsevier 17β-Hydroxysteroid dehydrogenase type 3 deficiency Elsevier |
| topic |
ddc 610 ddc 540 bkl 44.90 Elsevier HSD17B3 gene mutations Elsevier 46,XY Disorders of Sex Development Elsevier 17β-Hydroxysteroid dehydrogenase type 3 deficiency |
| topic_unstemmed |
ddc 610 ddc 540 bkl 44.90 Elsevier HSD17B3 gene mutations Elsevier 46,XY Disorders of Sex Development Elsevier 17β-Hydroxysteroid dehydrogenase type 3 deficiency |
| topic_browse |
ddc 610 ddc 540 bkl 44.90 Elsevier HSD17B3 gene mutations Elsevier 46,XY Disorders of Sex Development Elsevier 17β-Hydroxysteroid dehydrogenase type 3 deficiency |
| format_facet |
Elektronische Aufsätze Aufsätze Elektronische Ressource |
| format_main_str_mv |
Text Zeitschrift/Artikel |
| carriertype_str_mv |
zu |
| author2_variant |
z l zl j m jm x w xw j z jz s x sx m c mc w m wm q h qh h x hx b h bh m n mn x w xw |
| hierarchy_parent_title |
Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome |
| hierarchy_parent_id |
ELV002129892 |
| dewey-tens |
610 - Medicine & health 540 - Chemistry |
| hierarchy_top_title |
Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome |
| isfreeaccess_txt |
false |
| familylinks_str_mv |
(DE-627)ELV002129892 |
| title |
Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development |
| ctrlnum |
(DE-627)ELV040230163 (ELSEVIER)S0039-128X(17)30131-9 |
| title_full |
Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development |
| author_sort |
Yu, Bingqing |
| journal |
Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome |
| journalStr |
Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome |
| lang_code |
eng |
| isOA_bool |
false |
| dewey-hundreds |
600 - Technology 500 - Science |
| recordtype |
marc |
| publishDateSort |
2017 |
| contenttype_str_mv |
zzz |
| container_start_page |
1 |
| author_browse |
Yu, Bingqing |
| container_volume |
126 |
| physical |
6 |
| class |
610 540 610 DE-600 540 DE-600 610 VZ 44.90 bkl |
| format_se |
Elektronische Aufsätze |
| author-letter |
Yu, Bingqing |
| doi_str_mv |
10.1016/j.steroids.2017.07.009 |
| dewey-full |
610 540 |
| title_sort |
novel mutations of hsd17b3 in three chinese patients with 46,xy disorders of sex development |
| title_auth |
Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development |
| abstract |
• Three novel HSD17B3 mutations were identified. • “Apparent homozygosity” occurred in a patient with non-consanguineous parents. • Intragenic deletion happened in a patient with monoallelic mutation. |
| abstractGer |
• Three novel HSD17B3 mutations were identified. • “Apparent homozygosity” occurred in a patient with non-consanguineous parents. • Intragenic deletion happened in a patient with monoallelic mutation. |
| abstract_unstemmed |
• Three novel HSD17B3 mutations were identified. • “Apparent homozygosity” occurred in a patient with non-consanguineous parents. • Intragenic deletion happened in a patient with monoallelic mutation. |
| collection_details |
GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA |
| title_short |
Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development |
| url |
https://doi.org/10.1016/j.steroids.2017.07.009 |
| remote_bool |
true |
| author2 |
Liu, Zhaoxiang Mao, Jiangfeng Wang, Xi Zheng, Junjie Xiong, Shuyu Cui, Mingxuan Ma, Wanlu Huang, Qibin Xu, Hongli Huang, Bingkun Nie, Min Wu, Xueyan |
| author2Str |
Liu, Zhaoxiang Mao, Jiangfeng Wang, Xi Zheng, Junjie Xiong, Shuyu Cui, Mingxuan Ma, Wanlu Huang, Qibin Xu, Hongli Huang, Bingkun Nie, Min Wu, Xueyan |
| ppnlink |
ELV002129892 |
| mediatype_str_mv |
z |
| isOA_txt |
false |
| hochschulschrift_bool |
false |
| author2_role |
oth oth oth oth oth oth oth oth oth oth oth oth |
| doi_str |
10.1016/j.steroids.2017.07.009 |
| up_date |
2024-07-06T16:58:05.332Z |
| _version_ |
1803849653640232960 |
| fullrecord_marcxml |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">ELV040230163</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230624071749.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">180603s2017 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.steroids.2017.07.009</subfield><subfield code="2">doi</subfield></datafield><datafield tag="028" ind1="5" ind2="2"><subfield code="a">GBVA2017001000008.pica</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV040230163</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S0039-128X(17)30131-9</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">610</subfield><subfield code="a">540</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">DE-600</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">540</subfield><subfield code="q">DE-600</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.90</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Yu, Bingqing</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2017</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">6</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">• Three novel HSD17B3 mutations were identified. • “Apparent homozygosity” occurred in a patient with non-consanguineous parents. • Intragenic deletion happened in a patient with monoallelic mutation.</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">HSD17B3 gene mutations</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">46,XY Disorders of Sex Development</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">17β-Hydroxysteroid dehydrogenase type 3 deficiency</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Liu, Zhaoxiang</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Mao, Jiangfeng</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Wang, Xi</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Zheng, Junjie</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Xiong, Shuyu</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Cui, Mingxuan</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Ma, Wanlu</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Huang, Qibin</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Xu, Hongli</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Huang, Bingkun</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Nie, Min</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Wu, Xueyan</subfield><subfield code="4">oth</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="n">Elsevier Science</subfield><subfield code="a">Caraballo, Roberto ELSEVIER</subfield><subfield code="t">Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome</subfield><subfield code="d">2019</subfield><subfield code="d">official publication of the International Study Group for Steroid Hormones</subfield><subfield code="g">Amsterdam [u.a.]</subfield><subfield code="w">(DE-627)ELV002129892</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:126</subfield><subfield code="g">year:2017</subfield><subfield code="g">pages:1-6</subfield><subfield code="g">extent:6</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1016/j.steroids.2017.07.009</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ELV</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-PHA</subfield></datafield><datafield tag="936" ind1="b" ind2="k"><subfield code="a">44.90</subfield><subfield code="j">Neurologie</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">126</subfield><subfield code="j">2017</subfield><subfield code="h">1-6</subfield><subfield code="g">6</subfield></datafield><datafield tag="953" ind1=" " ind2=" "><subfield code="2">045F</subfield><subfield code="a">610</subfield></datafield></record></collection>
|
| score |
7.3996124 |