Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefevre syndrome
Hart, P. S.
Hart, T. C.
Is part ofMolecular Genetics and Metabolism
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Papillon-Lefevre syndrome (PLS) is an autosomal recessive palmoplantar keratoderma caused by cathepsin C (CTSC) gene mutations. This study reports CTSC mutational and enzyme analyses in a consanguineous Brazilian family with PLS, representing the first enzymatic analysis of a Brazilian kinship with PLS. This family segregates a novel PLS-related mutation, p.W185X, that is associated with a complete loss of enzymatic activity. (C) 2002 Elsevier Science (USA). All rights reserved.
CitationMolecular Genetics and Metabolism. San Diego: Academic Press Inc Elsevier Science, v. 76, n. 2, p. 145-147, 2002.
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