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Title: Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefevre syndrome
Authors: Hart, P. S.
Pallos, D.
Zhang, Y.
Sanchez, J.
Kavamura, I
Brunoni, D.
Hart, T. C.
Univ Pittsburgh
Univ Taubate
Universidade Federal de São Paulo (UNIFESP)
Keywords: cathepsin C
Papillon-Lefevre syndrome
palmoplantar keratoderma
nonsense mutation
mutational analysis
Issue Date: 1-Jun-2002
Publisher: Elsevier B.V.
Citation: Molecular Genetics and Metabolism. San Diego: Academic Press Inc Elsevier Science, v. 76, n. 2, p. 145-147, 2002.
Abstract: 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.
ISSN: 1096-7192
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