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Identification of mutations in Colombian patients affected with Fabry disease

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dc.contributor.authorUribe Ardila, Alfredo
dc.contributor.authorMateus, Eliana
dc.contributor.authorPrieto Rivera, Juan Carlos
dc.contributor.authorPalacios, Maria Fernanda
dc.contributor.authorOspina lagos, Sandra Yaneth
dc.contributor.authorPasqualim, Gabriela
dc.contributor.authorda Silveira Matte, Ursula
dc.contributor.authorGiugliani, Roberto
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana
dc.coverage.spatialColombiaspa
dc.date.accessioned2020-03-27T18:43:19Z
dc.date.accessioned2020-04-15T13:31:07Z
dc.date.available2020-03-27T18:43:19Z
dc.date.available2020-04-15T13:31:07Z
dc.date.created2015-12-15
dc.description.abstractenglishFabry Disease (FD) is an X-linked inborn error of glycosphingolipid catabolism, caused by a deficiency of the lisosomal α-galactosidase A (AGAL). The disorder leads to a vascular disease secondary to the involvement of kidney, heart and the central nervous system. The mutation analysis is a valuable tool for diagnosis and genetic counseling. Although more than 600 mutations have been identified, most mutations are private. Our objective was to describe the analysis of nine Colombian patients with Fabry disease by automated sequencing of the seven exons of the GLA gene. Two novel mutations were identified in two patients affected with the classical subtype of FD, in addition to other 6 mutations previously reported. The present study confirms the heterogeneity of mutations in Fabry disease and the importance of molecular analysis for genetic counseling, female heterozygotes detection as well as therapeutic decisions.spa
dc.description.paginas325-329spa
dc.description.quartilescopusQ1spa
dc.description.quartilewosQ2spa
dc.formatPDFspa
dc.format.mimetypeapplication/pdfspa
dc.format.soportePapel / Electrónicospa
dc.identifierhttps://www-sciencedirect-com.ezproxy.javeriana.edu.co/science/article/pii/S0378111915009865?via%3Dihubspa
dc.identifier.doihttps://doi.org/10.1016/j.gene.2015.08.018spa
dc.identifier.issn0378-1119 / 1879-0038 (Electrónico)spa
dc.identifier.urihttp://hdl.handle.net/10554/47875
dc.languagespaspa
dc.rights.licenceAtribución-NoComercial 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.sourceGene; Vol. 574 Núm. 2 (2015)spa
dc.subject.keywordα-galactosidase Aspa
dc.subject.keywordMutationsspa
dc.subject.keywordGLA genespa
dc.subject.keywordLysosomal disorderspa
dc.titleIdentification of mutations in Colombian patients affected with Fabry diseasespa
dc.title.englishIdentification of mutations in Colombian patients affected with Fabry diseasespa
dc.typeinfo:eu-repo/semantics/article
dc.type.hasversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.localArtículo de revistaspa

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