Article
Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.
Human mutation - 1 Oct 2005
Santos Regie Lyn P, Wajid Muhammad, Khan Mohammad Nasim, McArthur Nathan, Pham Thanh L, Bhatti Attya, Lee Kwanghyuk, Irshad Saba, Mir Asif, Yan Kai, Chahrour Maria H, Ansar Muhammad, Ahmad Wasim, Leal Suzanne M
Abstract excerpt
Though many hearing impairment genes have been identified, only a few of these genes have been screened in population studies. For this study, 168 Pakistani families with autosomal recessive hearing impairment not due to mutations in the GJB2 (Cx26) gene underwent a genome scan. Two-point and multipoint parametric linkage analyses were carried out. Twelve families had two-point or multipoint LOD scores of 1.4 or...
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