Article
Two novel missense mutations in the connexin 26 gene in Turkish patients with nonsyndromic hearing loss.
Biochemical genetics - 1 Apr 2010
Yilmaz Akin, Menevse Sevda, Bayazit Yildirim, Karamert Recep, Ergin Volkan, Menevse Adnan
Abstract excerpt
Most nonsyndromic hearing losses are caused by mutations in the GJB2 gene, and studies have revealed that the forms and frequencies of these mutations are largely dependent on ethnic origin. In the present study, we aimed to characterize the mutation profiles of 151 patients with hearing loss in Turkey. The entire coding region of the GJB2 was directly sequenced in all patients. We found 35 (23.2%) individuals...
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