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http://repositorio.unitau.br/jspui/handle/20.500.11874/2744| metadata.dc.type: | Artigo de Periódico |
| Title: | Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefevre syndrome |
| Authors: | Hart, Patricia Suzanne Pallos, Débora Zhang, Yingze Sanchez, Jane Kavamura, Ines Brunoni, Décio Hart, Thomas Charles. |
| 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. |
| metadata.dc.language: | Inglês |
| metadata.dc.publisher.country: | Estados Unidos |
| Publisher: | Academic Press Inc Elsevier Science |
| metadata.dc.rights: | Em verificação |
| metadata.dc.identifier.doi: | 10.1016/S1096-7192(02)00031-8 |
| URI: | http://repositorio.unitau.br/jspui/handle/20.500.11874/2744 |
| Issue Date: | 2002 |
| Appears in Collections: | Artigos de Periódicos |
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