Functional analysis of a nonsyndromic hearing loss-associated mutation in the transmembrane II domain of the GJC3 gene

In a previous study, we identified a novel missense mutation, p.W77S, in the GJC3 gene encoding connexin30.2/connexin31.3 (CX30.2/CX31.3) from patients with hearing loss. The functional alteration of CX30.2/CX31.3 caused by the p.W77S mutant of GJC3 gene, however, remains unclear. In the current stu...

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Detalles Bibliográficos
Autores principales: Wong, Swee-Hee, Wang, Wen-Hung, Chen, Pin-Hua, Li, Shuan-Yow, Yang, Jiann-Jou
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ivyspring International Publisher 2017
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370287/
https://www.ncbi.nlm.nih.gov/pubmed/28367085
http://dx.doi.org/10.7150/ijms.17785

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370287/
https://www.ncbi.nlm.nih.gov/pubmed/28367085
http://dx.doi.org/10.7150/ijms.17785

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