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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...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2011
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| Assuntos: | |
| Acesso em linha: | 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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