Please use this identifier to cite or link to this item: http://repositorio.unitau.br/jspui/handle/20.500.11874/2744
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dc.contributor.authorHart, Patricia Suzannept_BR
dc.contributor.authorPallos, Déborapt_BR
dc.contributor.authorZhang, Yingzept_BR
dc.contributor.authorSanchez, Janept_BR
dc.contributor.authorKavamura, Inespt_BR
dc.contributor.authorBrunoni, Déciopt_BR
dc.contributor.authorHart, Thomas Charles.pt_BR
dc.date.accessioned2019-09-12T16:53:44Z-
dc.date.available2019-09-12T16:53:44Z-
dc.date.issued2002-
dc.citation.volume76pt_BR
dc.citation.issue2pt_BR
dc.citation.spage145-
dc.citation.epage147-
dc.identifier.doi10.1016/S1096-7192(02)00031-8pt_BR
dc.identifier.issn1096-7192-
dc.identifier.urihttp://repositorio.unitau.br/jspui/handle/20.500.11874/2744-
dc.description.abstractPapillon-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.en
dc.description.provenanceMade available in DSpace on 2019-09-12T16:53:44Z (GMT). No. of bitstreams: 0 Previous issue date: 2002en
dc.languageInglêspt_BR
dc.publisherAcademic Press Inc Elsevier Science-
dc.publisher.countryEstados Unidospt_BR
dc.relation.ispartofMolecular Genetics and Metabolism-
dc.rightsEm verificaçãopt_BR
dc.sourceWeb of Sciencept_BR
dc.subject.otherCathepsin Cen
dc.subject.otherPapillon-Lefevre Syndromeen
dc.subject.otherPalmoplantar Keratodermaen
dc.subject.otherNonsense Mutationen
dc.subject.otherMutational Analysisen
dc.subject.otherGeneen
dc.titleIdentification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon-Lefevre syndromeen
dc.typeArtigo de Periódicopt_BR
dc.contributor.researcheridBrunoni, Decio/K-3155-2012pt_BR
dc.identifier.wosWOS:000176747600008-
dc.description.affiliationUniv Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15261 USA; Universidade de Taubaté (Unitau), Sch Dent, Dept Periodont, Sao Paulo, Brazil; Univ Pittsburgh, Sch Dent Med, Ctr Craniofacial & Dent Genet, Pittsburgh, PA 15261 USA; Univ Fed Sao Paulo, Ctr Genet Med, Sao Paulo, Brazil-
dc.subject.wosareaEndocrinology & Metabolismen
dc.subject.wosareaGenetics & Heredityen
dc.subject.wosareaMedicine, Research & Experimentalen
dc.subject.researchareaEndocrinology & Metabolismen
dc.subject.researchareaGenetics & Heredityen
dc.subject.researchareaResearch & Experimental Medicineen
Appears in Collections:Artigos de Periódicos

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