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

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 Pakis...

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Detalhes bibliográficos
Main Authors: Ahmed, Zubair M, Cindy Li, Xiaoyan, 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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2004
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC523852/
https://ncbi.nlm.nih.gov/pubmed/15447792
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-5-24
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