title: Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
authors.affiliation: Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA. ahmedz@nidcd.nih.gov
authors.forename: Zubair M
authors.initials: ZM
authors.lastname: Ahmed
authors.forename: Xiaoyan Cindy
authors.initials: XC
authors.lastname: Li
authors.forename: Shontell D
authors.initials: SD
authors.lastname: Powell
authors.forename: Saima
authors.initials: S
authors.lastname: Riazuddin
authors.forename: Terry-Lynn
authors.initials: TL
authors.lastname: Young
authors.forename: Khushnooda
authors.initials: K
authors.lastname: Ramzan
authors.forename: Zahoor
authors.initials: Z
authors.lastname: Ahmad
authors.forename: Sandra
authors.initials: S
authors.lastname: Luscombe
authors.forename: Kiran
authors.initials: K
authors.lastname: Dhillon
authors.forename: Linda
authors.initials: L
authors.lastname: MacLaren
authors.forename: Barbara
authors.initials: B
authors.lastname: Ploplis
authors.forename: Lawrence I
authors.initials: LI
authors.lastname: Shotland
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Ives
authors.forename: Sheikh
authors.initials: S
authors.lastname: Riazuddin
authors.forename: Thomas B
authors.initials: TB
authors.lastname: Friedman
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Morell
authors.forename: Edward R
authors.initials: ER
authors.lastname: Wilcox
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D003638:Deafness / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D009363:Neoplasm Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D009523:Newfoundland and Labrador; D010154:Pakistan; D010375:Pedigree; D020033:Protein Isoforms / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D012697:Serine Endopeptidases / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism
chemical_list: D008565:Membrane Proteins; D009363:Neoplasm Proteins; D020033:Protein Isoforms; D012697:Serine Endopeptidases; C409042:TMPRSS3 protein, human