Article
GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment.
Journal of genetics - 1 Dec 2009
Padma G, Ramchander P V, Nandur U V, Padma T
Abstract excerpt
Genetically caused deafness is a common trait affecting one in 1000 children and is predominantly inherited in an autosomalrecessive fashion. Several mutations in the GJB2 gene and a deletion of 342 kb in GJB6 gene (delGJB6-D13S1830) have been identified worldwide in patients with hearing impairment. In the present study, 303 nonsyndromic hearing-impaired patients (140 familial; 163 sporadic) were examined...
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