title: Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.
authors.forename: Y J
authors.initials: YJ
authors.lastname: Lee
authors.forename: D
authors.initials: D
authors.lastname: Park
authors.forename: S Y
authors.initials: SY
authors.lastname: Kim
authors.forename: W J
authors.initials: WJ
authors.lastname: Park
mesh_terms: D017668:Age of Onset; D000595:Amino Acid Sequence; D002648:Child; D003638:Deafness / Q000151:congenital / Q000201:enzymology* / Q000209:etiology / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D006868:Hydrolysis; D007231:Infant, Newborn; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D008969:Molecular Sequence Data; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic / Q000235:genetics*; D012697:Serine Endopeptidases / Q000235:genetics* / Q000378:metabolism
chemical_list: D008565:Membrane Proteins; D009363:Neoplasm Proteins; D012697:Serine Endopeptidases; C409042:TMPRSS3 protein, human