Article
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect.
Journal of human genetics - 1 Sept 2011
Barashkov Nikolay A, Dzhemileva Lilya U, Fedorova Sardana A, Teryutin Fedor M, Posukh Olga L, Fedotova Elvira E, Lobov Simeon L, Khusnutdinova Elza K
Abstract excerpt
Hereditary forms of hearing impairment (HI) caused by GJB2 (Cx26) mutations are the frequent sensory disorders registered among newborns in various human populations. In this study, we present data on the molecular, audiological and population features of autosomal recessive deafness 1A (DFNB1A) associated with the donor splicing site IVS1+1G>A mutation of GJB2 gene in Yakut population isolate of the Sakha...
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