Absence of the RET+3:T allele in the MTC patients
Abstract The mutations of the RET proto-oncogene contributes to the development of MTC by increasing the activity of the receptor encoded by this gene. Variant T of polymorphism rs2435357 located in the enhancer of the RET gene reduces the enhancer’s activity. The opposite effects of rs2435357 and t...
Ausführliche Beschreibung
Autor*in: |
Borun, Pawel [verfasserIn] |
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Format: |
E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2012 |
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Anmerkung: |
© Borun et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
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Übergeordnetes Werk: |
Enthalten in: Hereditary cancer in clinical practice - Berlin : Springer, 2003, 10(2012), 1 vom: 22. Okt. |
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Übergeordnetes Werk: |
volume:10 ; year:2012 ; number:1 ; day:22 ; month:10 |
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DOI / URN: |
10.1186/1897-4287-10-14 |
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Katalog-ID: |
SPR029722233 |
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520 | |a Abstract The mutations of the RET proto-oncogene contributes to the development of MTC by increasing the activity of the receptor encoded by this gene. Variant T of polymorphism rs2435357 located in the enhancer of the RET gene reduces the enhancer’s activity. The opposite effects of rs2435357 and the mutations causing medullary thyroid carcinoma resulted in the investigation of the status of this polymorphism in patients with MTC. In our study, we compared the frequency of polymorphism rs2435357 in the group of 48 MTC patients with its frequency in Polish population. The frequency of heterozygotes C/T at rs2435357 reached almost 12% (18/152) for the Polish population, in contrast to the group of MTC patients where not even a single T allele was found. The frequency difference is statistically significant. This observation might indicate that the presence of the heterozygous T allele at rs2435357 may be associated with the inhibition of medullary thyroid carcinoma development. | ||
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10.1186/1897-4287-10-14 doi (DE-627)SPR029722233 (SPR)1897-4287-10-14-e DE-627 ger DE-627 rakwb eng Borun, Pawel verfasserin aut Absence of the RET+3:T allele in the MTC patients 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Borun et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract The mutations of the RET proto-oncogene contributes to the development of MTC by increasing the activity of the receptor encoded by this gene. Variant T of polymorphism rs2435357 located in the enhancer of the RET gene reduces the enhancer’s activity. The opposite effects of rs2435357 and the mutations causing medullary thyroid carcinoma resulted in the investigation of the status of this polymorphism in patients with MTC. In our study, we compared the frequency of polymorphism rs2435357 in the group of 48 MTC patients with its frequency in Polish population. The frequency of heterozygotes C/T at rs2435357 reached almost 12% (18/152) for the Polish population, in contrast to the group of MTC patients where not even a single T allele was found. The frequency difference is statistically significant. This observation might indicate that the presence of the heterozygous T allele at rs2435357 may be associated with the inhibition of medullary thyroid carcinoma development. Medullary Thyroid Carcinoma (dpeaa)DE-He213 Polymorphism Rs2435357 (dpeaa)DE-He213 Multiple Endocrine Neoplasia Type (dpeaa)DE-He213 Polish Population (dpeaa)DE-He213 Medullary Thyroid Carcinoma Patient (dpeaa)DE-He213 Jerzy, Sowinski aut Ziemnicka, Katarzyna aut Kubaszewski, Lukasz aut Lipinski, Daniel aut Plawski, Andrzej aut Enthalten in Hereditary cancer in clinical practice Berlin : Springer, 2003 10(2012), 1 vom: 22. Okt. (DE-627)511229925 (DE-600)2233352-6 1897-4287 nnns volume:10 year:2012 number:1 day:22 month:10 https://dx.doi.org/10.1186/1897-4287-10-14 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2012 1 22 10 |
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10.1186/1897-4287-10-14 doi (DE-627)SPR029722233 (SPR)1897-4287-10-14-e DE-627 ger DE-627 rakwb eng Borun, Pawel verfasserin aut Absence of the RET+3:T allele in the MTC patients 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Borun et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract The mutations of the RET proto-oncogene contributes to the development of MTC by increasing the activity of the receptor encoded by this gene. Variant T of polymorphism rs2435357 located in the enhancer of the RET gene reduces the enhancer’s activity. The opposite effects of rs2435357 and the mutations causing medullary thyroid carcinoma resulted in the investigation of the status of this polymorphism in patients with MTC. In our study, we compared the frequency of polymorphism rs2435357 in the group of 48 MTC patients with its frequency in Polish population. The frequency of heterozygotes C/T at rs2435357 reached almost 12% (18/152) for the Polish population, in contrast to the group of MTC patients where not even a single T allele was found. The frequency difference is statistically significant. This observation might indicate that the presence of the heterozygous T allele at rs2435357 may be associated with the inhibition of medullary thyroid carcinoma development. Medullary Thyroid Carcinoma (dpeaa)DE-He213 Polymorphism Rs2435357 (dpeaa)DE-He213 Multiple Endocrine Neoplasia Type (dpeaa)DE-He213 Polish Population (dpeaa)DE-He213 Medullary Thyroid Carcinoma Patient (dpeaa)DE-He213 Jerzy, Sowinski aut Ziemnicka, Katarzyna aut Kubaszewski, Lukasz aut Lipinski, Daniel aut Plawski, Andrzej aut Enthalten in Hereditary cancer in clinical practice Berlin : Springer, 2003 10(2012), 1 vom: 22. Okt. (DE-627)511229925 (DE-600)2233352-6 1897-4287 nnns volume:10 year:2012 number:1 day:22 month:10 https://dx.doi.org/10.1186/1897-4287-10-14 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2012 1 22 10 |
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10.1186/1897-4287-10-14 doi (DE-627)SPR029722233 (SPR)1897-4287-10-14-e DE-627 ger DE-627 rakwb eng Borun, Pawel verfasserin aut Absence of the RET+3:T allele in the MTC patients 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Borun et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract The mutations of the RET proto-oncogene contributes to the development of MTC by increasing the activity of the receptor encoded by this gene. Variant T of polymorphism rs2435357 located in the enhancer of the RET gene reduces the enhancer’s activity. The opposite effects of rs2435357 and the mutations causing medullary thyroid carcinoma resulted in the investigation of the status of this polymorphism in patients with MTC. In our study, we compared the frequency of polymorphism rs2435357 in the group of 48 MTC patients with its frequency in Polish population. The frequency of heterozygotes C/T at rs2435357 reached almost 12% (18/152) for the Polish population, in contrast to the group of MTC patients where not even a single T allele was found. The frequency difference is statistically significant. This observation might indicate that the presence of the heterozygous T allele at rs2435357 may be associated with the inhibition of medullary thyroid carcinoma development. Medullary Thyroid Carcinoma (dpeaa)DE-He213 Polymorphism Rs2435357 (dpeaa)DE-He213 Multiple Endocrine Neoplasia Type (dpeaa)DE-He213 Polish Population (dpeaa)DE-He213 Medullary Thyroid Carcinoma Patient (dpeaa)DE-He213 Jerzy, Sowinski aut Ziemnicka, Katarzyna aut Kubaszewski, Lukasz aut Lipinski, Daniel aut Plawski, Andrzej aut Enthalten in Hereditary cancer in clinical practice Berlin : Springer, 2003 10(2012), 1 vom: 22. Okt. (DE-627)511229925 (DE-600)2233352-6 1897-4287 nnns volume:10 year:2012 number:1 day:22 month:10 https://dx.doi.org/10.1186/1897-4287-10-14 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2012 1 22 10 |
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10.1186/1897-4287-10-14 doi (DE-627)SPR029722233 (SPR)1897-4287-10-14-e DE-627 ger DE-627 rakwb eng Borun, Pawel verfasserin aut Absence of the RET+3:T allele in the MTC patients 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Borun et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract The mutations of the RET proto-oncogene contributes to the development of MTC by increasing the activity of the receptor encoded by this gene. Variant T of polymorphism rs2435357 located in the enhancer of the RET gene reduces the enhancer’s activity. The opposite effects of rs2435357 and the mutations causing medullary thyroid carcinoma resulted in the investigation of the status of this polymorphism in patients with MTC. In our study, we compared the frequency of polymorphism rs2435357 in the group of 48 MTC patients with its frequency in Polish population. The frequency of heterozygotes C/T at rs2435357 reached almost 12% (18/152) for the Polish population, in contrast to the group of MTC patients where not even a single T allele was found. The frequency difference is statistically significant. This observation might indicate that the presence of the heterozygous T allele at rs2435357 may be associated with the inhibition of medullary thyroid carcinoma development. Medullary Thyroid Carcinoma (dpeaa)DE-He213 Polymorphism Rs2435357 (dpeaa)DE-He213 Multiple Endocrine Neoplasia Type (dpeaa)DE-He213 Polish Population (dpeaa)DE-He213 Medullary Thyroid Carcinoma Patient (dpeaa)DE-He213 Jerzy, Sowinski aut Ziemnicka, Katarzyna aut Kubaszewski, Lukasz aut Lipinski, Daniel aut Plawski, Andrzej aut Enthalten in Hereditary cancer in clinical practice Berlin : Springer, 2003 10(2012), 1 vom: 22. Okt. (DE-627)511229925 (DE-600)2233352-6 1897-4287 nnns volume:10 year:2012 number:1 day:22 month:10 https://dx.doi.org/10.1186/1897-4287-10-14 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2012 1 22 10 |
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10.1186/1897-4287-10-14 doi (DE-627)SPR029722233 (SPR)1897-4287-10-14-e DE-627 ger DE-627 rakwb eng Borun, Pawel verfasserin aut Absence of the RET+3:T allele in the MTC patients 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Borun et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract The mutations of the RET proto-oncogene contributes to the development of MTC by increasing the activity of the receptor encoded by this gene. Variant T of polymorphism rs2435357 located in the enhancer of the RET gene reduces the enhancer’s activity. The opposite effects of rs2435357 and the mutations causing medullary thyroid carcinoma resulted in the investigation of the status of this polymorphism in patients with MTC. In our study, we compared the frequency of polymorphism rs2435357 in the group of 48 MTC patients with its frequency in Polish population. The frequency of heterozygotes C/T at rs2435357 reached almost 12% (18/152) for the Polish population, in contrast to the group of MTC patients where not even a single T allele was found. The frequency difference is statistically significant. This observation might indicate that the presence of the heterozygous T allele at rs2435357 may be associated with the inhibition of medullary thyroid carcinoma development. Medullary Thyroid Carcinoma (dpeaa)DE-He213 Polymorphism Rs2435357 (dpeaa)DE-He213 Multiple Endocrine Neoplasia Type (dpeaa)DE-He213 Polish Population (dpeaa)DE-He213 Medullary Thyroid Carcinoma Patient (dpeaa)DE-He213 Jerzy, Sowinski aut Ziemnicka, Katarzyna aut Kubaszewski, Lukasz aut Lipinski, Daniel aut Plawski, Andrzej aut Enthalten in Hereditary cancer in clinical practice Berlin : Springer, 2003 10(2012), 1 vom: 22. Okt. (DE-627)511229925 (DE-600)2233352-6 1897-4287 nnns volume:10 year:2012 number:1 day:22 month:10 https://dx.doi.org/10.1186/1897-4287-10-14 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 10 2012 1 22 10 |
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Borun, Pawel |
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Borun, Pawel misc Medullary Thyroid Carcinoma misc Polymorphism Rs2435357 misc Multiple Endocrine Neoplasia Type misc Polish Population misc Medullary Thyroid Carcinoma Patient Absence of the RET+3:T allele in the MTC patients |
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Absence of the RET+3:T allele in the MTC patients Medullary Thyroid Carcinoma (dpeaa)DE-He213 Polymorphism Rs2435357 (dpeaa)DE-He213 Multiple Endocrine Neoplasia Type (dpeaa)DE-He213 Polish Population (dpeaa)DE-He213 Medullary Thyroid Carcinoma Patient (dpeaa)DE-He213 |
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Abstract The mutations of the RET proto-oncogene contributes to the development of MTC by increasing the activity of the receptor encoded by this gene. Variant T of polymorphism rs2435357 located in the enhancer of the RET gene reduces the enhancer’s activity. The opposite effects of rs2435357 and the mutations causing medullary thyroid carcinoma resulted in the investigation of the status of this polymorphism in patients with MTC. In our study, we compared the frequency of polymorphism rs2435357 in the group of 48 MTC patients with its frequency in Polish population. The frequency of heterozygotes C/T at rs2435357 reached almost 12% (18/152) for the Polish population, in contrast to the group of MTC patients where not even a single T allele was found. The frequency difference is statistically significant. This observation might indicate that the presence of the heterozygous T allele at rs2435357 may be associated with the inhibition of medullary thyroid carcinoma development. © Borun et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
abstractGer |
Abstract The mutations of the RET proto-oncogene contributes to the development of MTC by increasing the activity of the receptor encoded by this gene. Variant T of polymorphism rs2435357 located in the enhancer of the RET gene reduces the enhancer’s activity. The opposite effects of rs2435357 and the mutations causing medullary thyroid carcinoma resulted in the investigation of the status of this polymorphism in patients with MTC. In our study, we compared the frequency of polymorphism rs2435357 in the group of 48 MTC patients with its frequency in Polish population. The frequency of heterozygotes C/T at rs2435357 reached almost 12% (18/152) for the Polish population, in contrast to the group of MTC patients where not even a single T allele was found. The frequency difference is statistically significant. This observation might indicate that the presence of the heterozygous T allele at rs2435357 may be associated with the inhibition of medullary thyroid carcinoma development. © Borun et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
abstract_unstemmed |
Abstract The mutations of the RET proto-oncogene contributes to the development of MTC by increasing the activity of the receptor encoded by this gene. Variant T of polymorphism rs2435357 located in the enhancer of the RET gene reduces the enhancer’s activity. The opposite effects of rs2435357 and the mutations causing medullary thyroid carcinoma resulted in the investigation of the status of this polymorphism in patients with MTC. In our study, we compared the frequency of polymorphism rs2435357 in the group of 48 MTC patients with its frequency in Polish population. The frequency of heterozygotes C/T at rs2435357 reached almost 12% (18/152) for the Polish population, in contrast to the group of MTC patients where not even a single T allele was found. The frequency difference is statistically significant. This observation might indicate that the presence of the heterozygous T allele at rs2435357 may be associated with the inhibition of medullary thyroid carcinoma development. © Borun et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
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