Title |
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan
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Published in |
BMC Medical Genomics, September 2004
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DOI | 10.1186/1471-2350-5-24 |
Pubmed ID | |
Authors |
Zubair M Ahmed, Xiaoyan Cindy Li, Shontell D Powell, Saima Riazuddin, Terry-Lynn Young, Khushnooda Ramzan, Zahoor Ahmad, Sandra Luscombe, Kiran Dhillon, Linda MacLaren, Barbara Ploplis, Lawrence I Shotland, Elizabeth Ives, Sheikh Riazuddin, Thomas B Friedman, Robert J Morell, Edward R Wilcox |
Abstract |
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 thoroughly characterized the genomic structure of TMPRSS3. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 11 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 3 | 27% |
Other | 1 | 9% |
Lecturer | 1 | 9% |
Student > Bachelor | 1 | 9% |
Student > Master | 1 | 9% |
Other | 2 | 18% |
Unknown | 2 | 18% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 4 | 36% |
Medicine and Dentistry | 3 | 27% |
Biochemistry, Genetics and Molecular Biology | 1 | 9% |
Unknown | 3 | 27% |