A Novel Missense Mutation in the Connexin30 Causes Nonsyndromic Hearing Loss

Dysfunctional gap junctions caused by GJB2 (CX26) and GJB6 (CX30) mutations are implicated in nearly half of nonsyndromic hearing loss cases. A recent study identified a heterozygous mutation, c.119C>T (p.A40V), in the GJB6 gene of patients with nonsyndromic hearing loss. However, the functional...

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Detalles Bibliográficos
Autores principales: Wang, Wen-Hung, Liu, Yu-Fan, Su, Ching-Chyuan, Su, Mao-Chang, Li, Shuan-Yow, Yang, Jiann-Jou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3123352/
https://www.ncbi.nlm.nih.gov/pubmed/21731760
http://dx.doi.org/10.1371/journal.pone.0021473

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3123352/
https://www.ncbi.nlm.nih.gov/pubmed/21731760
http://dx.doi.org/10.1371/journal.pone.0021473

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