Article
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
BMC medical genetics - 24 Sept 2004
Ahmed Zubair M, Li Xiaoyan Cindy, Powell Shontell D, Riazuddin Saima, Young Terry-Lynn, Ramzan Khushnooda, Ahmad Zahoor, Luscombe Sandra, Dhillon Kiran, MacLaren Linda, Ploplis Barbara, Shotland Lawrence I, Ives Elizabeth, Riazuddin Sheikh, Friedman Thomas B, Morell Robert J, Wilcox Edward R
Abstract excerpt
BACKGROUND: Mutant alleles of TMPRSS3 are associated with nonsyndromic recessive deafness (DFNB8/B10). TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence has no signal peptide. In this study, we searched for mutant alleles of TMPRSS3 in families from Pakistan and Newfoundland with recessive deafness co-segregating with DFNB8/B10 linked haplotypes and also more...
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