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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Veröffentlicht in:	Molecular medicine (Cambridge, Mass.) Mass.), 2011-05, Vol.17 (5-6), p.550-556
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:	Artikel
Sprache:	eng
Schlagworte:	Alleles Asian Continental Ancestry Group Cell Line Connexin 26 Connexins - genetics Gap Junctions - genetics Gap Junctions - metabolism Genotype Haplotypes - genetics Hearing Loss - genetics Humans Linkage Disequilibrium - genetics Polymorphism, Genetic - genetics
Online-Zugang:	Volltext
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