Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
Ahmed
Zubair M
ZM
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
Li
Xiaoyan Cindy
XC
Powell
Shontell D
SD
Riazuddin
Saima
S
Young
Terry-Lynn
TL
Ramzan
Khushnooda
K
Ahmad
Zahoor
Z
Luscombe
Sandra
S
Dhillon
Kiran
K
MacLaren
Linda
L
Ploplis
Barbara
B
Shotland
Lawrence I
LI
Ives
Elizabeth
E
Riazuddin
Sheikh
S
Friedman
Thomas B
TB
Morell
Robert J
RJ
Wilcox
Edward R
ER
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
D008565:Membrane Proteins; D009363:Neoplasm Proteins; D020033:Protein Isoforms; D012697:Serine Endopeptidases; C409042:TMPRSS3 protein, human