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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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Wang, Wen-Hung, Liu, Yu-Fan, Su, Ching-Chyuan, Su, Mao-Chang, Li, Shuan-Yow, Yang, Jiann-Jou
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2011
Aiheet:
Linkit: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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