Article
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.
Journal of medical genetics - 1 Jan 2001
Houseman M J, Ellis L A, Pagnamenta A, Di W L, Rickard S, Osborn A H, Dahl H H, Taylor G R, Bitner-Glindzicz M, Reardon W, Mueller R F, Kelsell D P
Abstract excerpt
Mutations in the human gap junction beta-2 gene (GJB2) that encodes connexin-26 have been shown to cause non-syndromic sensorineural hearing loss (NSSNHL) at the DFNB1 locus on 13q11. Functional and genetic data regarding the disease causing potential of one particular GJB2 sequence variant, 101 T-->C (M34T), have proven contradictory. In this study, we found the prevalence of the M34T allele in a cohort of white...
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