Article
Splice-site mutations in the TRIC gene underlie autosomal recessive nonsyndromic hearing impairment in Pakistani families.
Journal of human genetics - 1 Jan 2008
Chishti Muhammad S, Bhatti Attya, Tamim Sana, Lee Kwanghyuk, McDonald Merry-Lynn, Leal Suzanne M, Ahmad Wasim
Abstract excerpt
Hereditary hearing impairment (HI) displays extensive genetic heterogeneity. To date, 67 autosomal recessive nonsyndromic hearing impairment (ARNSHI) loci have been mapped, and 24 genes have been identified. This report describes three large consanguineous ARNSHI Pakistani families, all of which display linkage to marker loci located in the genetic interval of DFNB49 locus on chromosome 5q13. Recently, Riazuddin...
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