Article
Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario.
American journal of medical genetics. Part A - 15 Jul 2003
Maheshwari Manjula, Vijaya R, Ghosh Manju, Shastri Shivaram, Kabra Madhulika, Menon P S N
Abstract excerpt
Several studies have reported that mutations in the GJB2 gene (coding for connexin26) are a common cause of recessive non-syndromic hearing impairment. A GJB2 mutant allele, 35delG, has been found to have a high prevalence in most ethnic groups. Though mutations in the GJB2 gene have been shown to cause autosomal recessive deafness in Indian families, the frequencies of the various mutations are still unknown. In...
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