The p.Cys169Tyr variant of connexin 26 is not a polymorphism

Mutations in the GJB2 gene, which encodes the gap junction protein connexin 26 (Cx26), are the primary cause of hereditary prelingual hearing impairment. Here, the p.Cys169Tyr missense mutation of Cx26 (Cx26C169Y), previously classified as a polymorphism, has been identified as causative of severe h...

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Detalles Bibliográficos
Autores principales: Zonta, Francesco, Girotto, Giorgia, Buratto, Damiano, Crispino, Giulia, Morgan, Anna, Abdulhadi, Khalid, Alkowari, Moza, Badii, Ramin, Gasparini, Paolo, Mammano, Fabio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2015
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383868/
https://www.ncbi.nlm.nih.gov/pubmed/25628337
http://dx.doi.org/10.1093/hmg/ddv026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4383868/
https://www.ncbi.nlm.nih.gov/pubmed/25628337
http://dx.doi.org/10.1093/hmg/ddv026

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