Pathogenetic role of the deafness-related M34T mutation of Cx26

Mutations in the GJB2 gene, which encodes the gap junction protein connexin26 (Cx26), are the major cause of genetic non-syndromic hearing loss. The role of the allelic variant M34T in causing hereditary deafness remains controversial. By combining genetic, clinical, biochemical, electrophysiologica...

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Autors principals: Bicego, Massimiliano, Beltramello, Martina, Melchionda, Salvatore, Carella, Massimo, Piazza, Valeria, Zelante, Leopoldo, Bukauskas, Feliksas F., Arslan, Edoardo, Cama, Elona, Pantano, Sergio, Bruzzone, Roberto, D’Andrea, Paola, Mammano, Fabio
Format: Artigo
Idioma:Inglês
Publicat: 2006
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2829448/
https://ncbi.nlm.nih.gov/pubmed/16849369
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddl184
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