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A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor–Mediated Cell Signaling, Causes Progressive Hearing Loss

We previously mapped a novel autosomal dominant deafness locus, DFNA44, by studying a family with postlingual, progressive, nonsyndromic hearing loss. We report here on the identification of a mutation in CCDC50 as the cause of hearing loss in the family. CCDC50 encodes Ymer, an effector of epiderma...

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Detalhes bibliográficos
Main Authors: Modamio-Høybjør, Silvia , Mencía, Ángeles , Goodyear, Richard , del Castillo, Ignacio , Richardson, Guy , Moreno, Felipe , Moreno-Pelayo, Miguel Ángel 
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2007
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1867096/
https://ncbi.nlm.nih.gov/pubmed/17503326
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