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Identification of mutations in Colombian patients affected with Fabry disease

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dc.creatorUribe, Alfredospa
dc.creatorMateus, Heidi Elianaspa
dc.creatorPrieto, Juan Carlosspa
dc.creatorPalacios, Maria Fernandaspa
dc.creatorOspina, Sandra Yanethspa
dc.creatorPasqualim, Gabrielaspa
dc.creatorda Silveira Matte, Ursulaspa
dc.creatorGiugliani, Robertospa
dc.date.accessioned2020-05-26T00:08:59Z
dc.date.available2020-05-26T00:08:59Z
dc.date.created2015spa
dc.description.abstractFabry Disease (FD) is an X-linked inborn error of glycosphingolipid catabolism, caused by a deficiency of the lisosomal ?-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. © 2015 Elsevier B.V.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.gene.2015.08.018
dc.identifier.issn3781119
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/24132
dc.language.isoengspa
dc.publisherElsevierspa
dc.relation.citationEndPage329
dc.relation.citationIssueNo. 2
dc.relation.citationStartPage325
dc.relation.citationTitleGene
dc.relation.citationVolumeVol. 574
dc.relation.ispartofGene, ISSN:3781119, Vol.574, No.2 (2015); pp. 325-329spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-84946472164&doi=10.1016%2fj.gene.2015.08.018&partnerID=40&md5=8d667fcb0e4d0ad3048568a9b250130cspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordAlpha galactosidasespa
dc.subject.keywordAlpha galactosidasespa
dc.subject.keywordAdultspa
dc.subject.keywordArticlespa
dc.subject.keywordClinical articlespa
dc.subject.keywordColombianspa
dc.subject.keywordExonspa
dc.subject.keywordFabry diseasespa
dc.subject.keywordFemalespa
dc.subject.keywordGenespa
dc.subject.keywordGene identificationspa
dc.subject.keywordGene mutationspa
dc.subject.keywordGenetic analysisspa
dc.subject.keywordGenetic counselingspa
dc.subject.keywordGenotypespa
dc.subject.keywordHeterozygotespa
dc.subject.keywordHumanspa
dc.subject.keywordMalespa
dc.subject.keywordMiddle agedspa
dc.subject.keywordOpen reading framespa
dc.subject.keywordPhenotypespa
dc.subject.keywordPriority journalspa
dc.subject.keywordSequence analysisspa
dc.subject.keywordColombiaspa
dc.subject.keywordDna mutational analysisspa
dc.subject.keywordFabry diseasespa
dc.subject.keywordGenetic association studyspa
dc.subject.keywordGenetic heterogeneityspa
dc.subject.keywordGeneticsspa
dc.subject.keywordHeterozygote detectionspa
dc.subject.keywordMolecular geneticsspa
dc.subject.keywordMutationspa
dc.subject.keywordNucleotide sequencespa
dc.subject.keywordAdultspa
dc.subject.keywordAlpha-galactosidasespa
dc.subject.keywordBase sequencespa
dc.subject.keywordColombiaspa
dc.subject.keywordDna mutational analysisspa
dc.subject.keywordFabry diseasespa
dc.subject.keywordFemalespa
dc.subject.keywordGenetic association studiesspa
dc.subject.keywordGenetic heterogeneityspa
dc.subject.keywordHeterozygote detectionspa
dc.subject.keywordHumansspa
dc.subject.keywordMalespa
dc.subject.keywordMiddle agedspa
dc.subject.keywordMolecular sequence dataspa
dc.subject.keywordMutationspa
dc.subject.keywordGla genespa
dc.subject.keywordLysosomal disorderspa
dc.subject.keywordMutationsspa
dc.subject.keyword?-galactosidase aspa
dc.titleIdentification of mutations in Colombian patients affected with Fabry diseasespa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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