Article
Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic).
PloS one - 1 Jan 2016
Barashkov Nikolay A, Pshennikova Vera G, Posukh Olga L, Teryutin Fedor M, Solovyev Aisen V, Klarov Leonid A, Romanov Georgii P, Gotovtsev Nyurgun N, Kozhevnikov Andrey A, Kirillina Elena V, Sidorova Oksana G, Vasilyevа Lena M, Fedotova Elvira E, Morozov Igor V, Bondar Alexander A, Solovyevа Natalya A, Kononova Sardana K, Rafailov Adyum M, Sazonov Nikolay N, Alekseev Anatoliy N, Tomsky Mikhail I, Dzhemileva Lilya U, Khusnutdinova Elza K, Fedorova Sardana A
Abstract excerpt
Pathogenic variants in the GJB2 gene, encoding connexin 26, are known to be a major cause of hearing impairment (HI). More than 300 allelic variants have been identified in the GJB2 gene. Spectrum and allelic frequencies of the GJB2 gene vary significantly among different ethnic groups worldwide. Until now, the spectrum and frequency of the pathogenic variants in exon 1, exon 2 and the flanking intronic regions...
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