DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes
Author:
Funder
Instituto de Salud Carlos III
Publisher
Frontiers Media SA
Subject
Cellular and Molecular Neuroscience,Molecular Biology
Reference196 articles.
1. Prevalent connexin 26 gene (GJB2) mutations in Japanese;Abe;J. Med. Genet.,2000
2. Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix;Ambrosi;PLoS One,2013
3. ATP release through connexin hemichannels and gap junction transfer of second messengers propagate Ca2+ signals across the inner ear;Anselmi;Proc. Natl. Acad. Sci. U S A,2008
4. GJB2: the spectrum of deafness-causing allele variants and their phenotype;Azaiez;Hum. Mutat.,2004
5. In reference to temporal bone imaging in GJB2 deafness;Azaiez;Laryngoscope,2007
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