Loading...

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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Wang, Wen-Hung, Liu, Yu-Fan, Su, Ching-Chyuan, Su, Mao-Chang, Li, Shuan-Yow, Yang, Jiann-Jou
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2011
Fag:
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!