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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Bibliographic Details
Main Authors: Wang, Wen-Hung, Liu, Yu-Fan, Su, Ching-Chyuan, Su, Mao-Chang, Li, Shuan-Yow, Yang, Jiann-Jou
Format: Artigo
Language:Inglês
Published: Public Library of Science 2011
Subjects:
Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3123352/
https://ncbi.nlm.nih.gov/pubmed/21731760
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0021473
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