Functional Evaluation of GJB2 Variants in Nonsyndromic Hearing Loss

Mutations in the gap junction β2 (GJB2) gene, encoding the connexin26 (CX26) protein, are the most common cause of non-syndromic hearing loss (HL) in many populations. In the East Asian population, two variants, p.V27I (c.79G>A) and p.E114G (c.341G>A), are considered benign polymorphisms since...

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Bibliographische Detailangaben
Hauptverfasser: Choi, Soo-Young, Lee, Kyu Yup, Kim, Hyun-Jin, Kim, Hyo-Kyeong, Chang, Qing, Park, Hong-Joon, Jeon, Chang-Jin, Lin, Xi, Bok, Jinwoong, Kim, Un-Kyung
Format: Artigo
Sprache:Inglês
Veröffentlicht: ScholarOne 2011
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3105137/
https://ncbi.nlm.nih.gov/pubmed/21298213
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2119/molmed.2010.00183
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