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

• Main Authors: Shotland Lawrence I (Author), Ploplis Barbara (Author), MacLaren Linda (Author), Dhillon Kiran (Author), Luscombe Sandra (Author), Ahmad Zahoor (Author), Ramzan Khushnooda (Author), Young Terry-Lynn (Author), Riazuddin Saima (Author), Powell Shontell D (Author), Cindy Li Xiaoyan (Author), Ahmed Zubair M (Author), Ives Elizabeth (Author), Riazuddin Sheikh (Author), Friedman Thomas B (Author), Morell Robert J (Author), Wilcox Edward R (Author)
• פורמט: ספר
• יצא לאור: BMC, 2004-09-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

<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...