Bioinformatic Analysis of GJB2 Gene Missense Mutations.
Burdur, Turkey. In Cell Biochem Biophys, 12 Dec 2014
Hence, the aim of this study is to analyze structural and functional consequences of all known GJB2 missense variations to the Cx26 protein by applying multiple bioinformatics methods.
Genetics of non-syndromic hearing loss in the Middle East.
Tehrān, Iran. In Int J Pediatr Otorhinolaryngol, 04 Oct 2014
Non-syndromic deafness is highly heterogeneous and mutations in the GJB2 are responsible for almost 30-50% in northwest to as low as 0-5% in south and southeast of the Middle East, it remain as major gene in ARNSHL in Middle East.
Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans.
Seoul, South Korea. In Korean J Audiol, Sep 2014
The other causative genes were MRNR1, WFS1, COCH, TECTA, MYO6, COL11A2, EYA4, GJB3, OTOF, STRC, MYO3A, and GJB2.
[Hearing loss associated with GJB2 gene mutation].
In Lin Chuang Er Bi Yan Hou Ke Za Zhi, Oct 2013
The mutation of GJB2 (gap junction protein, beta 2) gene accounts for 80% of NSHL and more than 50% of children NSHL, playing the most important role in deafness genes.