Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family

Waardenburg syndrome (WS) is a dominantly inherited, genetically heterogeneous auditory-pigmentary syndrome characterized by non-progressive sensorineural hearing loss and iris discoloration. By whole-exome sequencing (WES), we identified a nonsense mutation (c.598C>T) in PAX3 gene, predicted to...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Chen, Dezhong, Zhao, Na, Wang, Jing, Li, Zhuoyu, Wu, Changxin, Fu, Jie, Xiao, Han
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5489998/
https://ncbi.nlm.nih.gov/pubmed/28690861
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.27
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