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https://repositorio.unifesp.br/handle/11600/26888| 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. |
| URI: | http://repositorio.unifesp.br/handle/11600/26888 |
| ISSN: | 1096-7192 |
| Other Identifiers: | http://dx.doi.org/10.1016/S1096-7192(02)00031-8 |
| Appears in Collections: | Em verificação - Geral |
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