Article
Functional evaluation of GJB2 variants in nonsyndromic hearing loss.
Molecular medicine (Cambridge, Mass.) - 1 Jan 2000
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
Abstract excerpt
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 these variants have been identified in both HL patients and normal hearing controls. However, some studies have...
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