Characterization of a new full length <it>TMPRSS3 </it>isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

Characterization of a new full length <it>TMPRSS3 </it>isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan

<p>Abstract</p> <p>Background</p> <p>Mutant alleles of <it>TMPRSS3 </it>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...

Full description

Bibliographic Details
Main Authors: Shotland Lawrence I, Ploplis Barbara, MacLaren Linda, Dhillon Kiran, Luscombe Sandra, Ahmad Zahoor, Ramzan Khushnooda, Young Terry-Lynn, Riazuddin Saima, Powell Shontell D, Cindy Li Xiaoyan, Ahmed Zubair M, Ives Elizabeth, Riazuddin Sheikh, Friedman Thomas B, Morell Robert J, Wilcox Edward R
Format: Article
Language:English
Published: BMC 2004-09-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/5/24

Internet

http://www.biomedcentral.com/1471-2350/5/24

Similar Items