Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefevre syndrome

Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefevre syndrome

Autor Hart, P. S. Google Scholar
Pallos, D. Google Scholar
Zhang, Y. Google Scholar
Sanchez, J. Google Scholar
Kavamura, I Google Scholar
Brunoni, D. Google Scholar
Hart, T. C. Google Scholar
Instituição Univ Pittsburgh
Univ Taubate
Universidade Federal de São Paulo (UNIFESP)
Resumo 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.
Palavra-chave cathepsin C
Papillon-Lefevre syndrome
palmoplantar keratoderma
nonsense mutation
mutational analysis
Idioma Inglês
Data de publicação 2002-06-01
Publicado em Molecular Genetics and Metabolism. San Diego: Academic Press Inc Elsevier Science, v. 76, n. 2, p. 145-147, 2002.
ISSN 1096-7192 (Sherpa/Romeo, fator de impacto)
Publicador Elsevier B.V.
Extensão 145-147
Fonte http://dx.doi.org/10.1016/S1096-7192(02)00031-8
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000176747600008
Endereço permanente http://repositorio.unifesp.br/handle/11600/26888

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