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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Bibliographic Details
Published in:Hum Mol Genet
Main Authors: Zonta, Francesco, Girotto, Giorgia, Buratto, Damiano, Crispino, Giulia, Morgan, Anna, Abdulhadi, Khalid, Alkowari, Moza, Badii, Ramin, Gasparini, Paolo, Mammano, Fabio
Format: Artigo
Language:Inglês
Published: Oxford University Press 2015
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4383868/
https://ncbi.nlm.nih.gov/pubmed/25628337
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv026
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