Article
Identification of an ancestral haplotype of the 35delG mutation in the GJB2 (connexin 26) gene responsible for autosomal recessive non-syndromic hearing loss in families from the Eastern Black Sea Region in Turkey.
The Turkish journal of pediatrics - 1 Jan 2000
Balci Burcu, Gerçeker Filiz Ozbaş, Aksoy Songül, Sennaroğlu Gonca, Kalay Ersan, Sennaroğlu Levent, Dinçer Pervin
Abstract excerpt
Mutations in the GJB2 gene have been shown to be the major cause of autosomal recessively inherited, prelingual, non-syndromic hearing loss. 35delG was found to be the most frequent mutation among Caucasians. In this study, we performed haplotype analysis of two large families with autosomal recessive non-syndromic hearing loss (totally 33 affected, 37 unaffected) from Trabzon (a city from the Eastern Black Sea...
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