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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: ScholarOne 2011
Assuntos:
Article
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados