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

• Váldodahkkit: Shotland Lawrence I (Dahkki), Ploplis Barbara (Dahkki), MacLaren Linda (Dahkki), Dhillon Kiran (Dahkki), Luscombe Sandra (Dahkki), Ahmad Zahoor (Dahkki), Ramzan Khushnooda (Dahkki), Young Terry-Lynn (Dahkki), Riazuddin Saima (Dahkki), Powell Shontell D (Dahkki), Cindy Li Xiaoyan (Dahkki), Ahmed Zubair M (Dahkki), Ives Elizabeth (Dahkki), Riazuddin Sheikh (Dahkki), Friedman Thomas B (Dahkki), Morell Robert J (Dahkki), Wilcox Edward R (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2004-09-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: 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...