Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family
Autosomal dominant non-syndromic low-frequency sensorineural hearing loss (LFSNHL) DFNA6/14/38 is an uncommon type of hearing loss that classically affects low frequencies of 2000 Hz and below, demonstrating an ascending configuration. The current study aimed to investigate the cause of LFSNHL in a...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Niu, Zhijie [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2017 |
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| Schlagwörter: |
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| Umfang: |
7 |
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| Übergeordnetes Werk: |
Enthalten in: Investigation of structural analogs of hydroxychloroquine for SARS-CoV-2 main protease (Mpro): A computational drug discovery study - Reyaz, Saima ELSEVIER, 2021, Amsterdam [u.a.] |
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| Übergeordnetes Werk: |
volume:100 ; year:2017 ; pages:1-7 ; extent:7 |
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| DOI / URN: |
10.1016/j.ijporl.2017.06.008 |
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| 520 | |a Autosomal dominant non-syndromic low-frequency sensorineural hearing loss (LFSNHL) DFNA6/14/38 is an uncommon type of hearing loss that classically affects low frequencies of 2000 Hz and below, demonstrating an ascending configuration. The current study aimed to investigate the cause of LFSNHL in a five-generation Chinese family. | ||
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10.1016/j.ijporl.2017.06.008 doi GBVA2017005000020.pica (DE-627)ELV025111051 (ELSEVIER)S0165-5876(17)30256-2 DE-627 ger DE-627 rakwb eng 610 610 DE-600 540 004 VZ 35.06 bkl Niu, Zhijie verfasserin aut Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family 2017 7 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Autosomal dominant non-syndromic low-frequency sensorineural hearing loss (LFSNHL) DFNA6/14/38 is an uncommon type of hearing loss that classically affects low frequencies of 2000 Hz and below, demonstrating an ascending configuration. The current study aimed to investigate the cause of LFSNHL in a five-generation Chinese family. Low-frequency hearing loss Elsevier Exome sequencing Elsevier DFNA6/14/38 Elsevier WFS1 Elsevier Novel mutation Elsevier Feng, Yong oth Hu, Zhengmao oth Li, Jiada oth Sun, Jie oth Chen, Hongsheng oth He, Chufeng oth Wang, Xueping oth Jiang, Lu oth Liu, Yalan oth Cai, Xinzhang oth Wang, Lili oth Cai, Yuxiang oth Liu, Xuezhong oth Mei, Lingyun oth Enthalten in Elsevier Science Reyaz, Saima ELSEVIER Investigation of structural analogs of hydroxychloroquine for SARS-CoV-2 main protease (Mpro): A computational drug discovery study 2021 Amsterdam [u.a.] (DE-627)ELV006862241 volume:100 year:2017 pages:1-7 extent:7 https://doi.org/10.1016/j.ijporl.2017.06.008 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 35.06 Computeranwendungen Chemie VZ AR 100 2017 1-7 7 045F 610 |
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Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family |
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(DE-627)ELV025111051 (ELSEVIER)S0165-5876(17)30256-2 |
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Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family |
| author_sort |
Niu, Zhijie |
| journal |
Investigation of structural analogs of hydroxychloroquine for SARS-CoV-2 main protease (Mpro): A computational drug discovery study |
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Investigation of structural analogs of hydroxychloroquine for SARS-CoV-2 main protease (Mpro): A computational drug discovery study |
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eng |
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600 - Technology 500 - Science 000 - Computer science, information & general works |
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2017 |
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Niu, Zhijie |
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610 610 DE-600 540 004 VZ 35.06 bkl |
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Elektronische Aufsätze |
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Niu, Zhijie |
| doi_str_mv |
10.1016/j.ijporl.2017.06.008 |
| dewey-full |
610 540 004 |
| title_sort |
exome sequencing identifies a novel missense mutation of wfs1 as the cause of non-syndromic low-frequency hearing loss in a chinese family |
| title_auth |
Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family |
| abstract |
Autosomal dominant non-syndromic low-frequency sensorineural hearing loss (LFSNHL) DFNA6/14/38 is an uncommon type of hearing loss that classically affects low frequencies of 2000 Hz and below, demonstrating an ascending configuration. The current study aimed to investigate the cause of LFSNHL in a five-generation Chinese family. |
| abstractGer |
Autosomal dominant non-syndromic low-frequency sensorineural hearing loss (LFSNHL) DFNA6/14/38 is an uncommon type of hearing loss that classically affects low frequencies of 2000 Hz and below, demonstrating an ascending configuration. The current study aimed to investigate the cause of LFSNHL in a five-generation Chinese family. |
| abstract_unstemmed |
Autosomal dominant non-syndromic low-frequency sensorineural hearing loss (LFSNHL) DFNA6/14/38 is an uncommon type of hearing loss that classically affects low frequencies of 2000 Hz and below, demonstrating an ascending configuration. The current study aimed to investigate the cause of LFSNHL in a five-generation Chinese family. |
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GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA |
| title_short |
Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family |
| url |
https://doi.org/10.1016/j.ijporl.2017.06.008 |
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Feng, Yong Hu, Zhengmao Li, Jiada Sun, Jie Chen, Hongsheng He, Chufeng Wang, Xueping Jiang, Lu Liu, Yalan Cai, Xinzhang Wang, Lili Cai, Yuxiang Liu, Xuezhong Mei, Lingyun |
| author2Str |
Feng, Yong Hu, Zhengmao Li, Jiada Sun, Jie Chen, Hongsheng He, Chufeng Wang, Xueping Jiang, Lu Liu, Yalan Cai, Xinzhang Wang, Lili Cai, Yuxiang Liu, Xuezhong Mei, Lingyun |
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10.1016/j.ijporl.2017.06.008 |
| up_date |
2024-07-06T16:42:49.070Z |
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