Article
Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia.
Clinical genetics - 1 Jan 2005
Tekin M, Boğoclu G, Arican S T, Orman M N, Tastan H, Elsobky E, Elsayed S, Akar N
Abstract excerpt
Eighteen different sequence changes, including three novel alterations, were detected in GJB2, encoding connexin 26, in 371 Turkish probands with non-syndromic sensorineural hearing loss. Two frequently detected mutations, 35delG and delE120, were shown to have single origins based on the conserved genotypes of two closely linked microsatellite and five single nucleotide polymorphism markers. Carrier frequencies...
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