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Novel LDLR variants in Iberoamerica: preliminary molecular results of familial hypercholesterolaemia in Iberoamerica

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dc.contributor.authorAzevedo, S.
dc.contributor.authorBañares, V.
dc.contributor.authorSchreier, L.
dc.contributor.authorVázquez, A.
dc.contributor.authorMedeiros, A.M.
dc.contributor.authorAlves, A.C.
dc.contributor.authorBourbon, Mafalda
dc.date.accessioned2016-02-17T13:48:13Z
dc.date.available2016-02-17T13:48:13Z
dc.date.issued2015-03
dc.description.abstractFamilial Hypercholesterolaemia (FH) is an autosomal dominant disorder with increased cardiovascular risk, due to high levels of cholesterol in blood since birth. The study of the molecular basis of FH in Iberoamerican countries, which have an historical link, can contribute for phenotype/genotype clarification and improve patient prognosis. One of the aims of the recently formed Iberoamerica Familial Hypercholesterolaemia Network is to promote these studies. The aim of the present study is to promote, at early age, an accurate identification and diagnosis of FH in Iberoamerican countries, so preventive measures and if necessary yearly treatment, can be implemented in order to give these patients a longer and better life.pt_PT
dc.description.sponsorshipAcknowledgements:AM Medeiros was funded by BRJ-DPS/2012; AC Alves was funded byFCTSFRH/BD/27990/2006 and FCT_PTDC/SAU-GMG/101874/2008pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/3370
dc.language.isoengpt_PT
dc.publisherInstituto Nacional de Saúde Doutor Ricardo Jorge, IPpt_PT
dc.relationNovel genes causing Familial Hypercholesterolaemia
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.subjectFamilial Hypercholesterolaemiapt_PT
dc.titleNovel LDLR variants in Iberoamerica: preliminary molecular results of familial hypercholesterolaemia in Iberoamericapt_PT
dc.typeconference object
dspace.entity.typePublication
oaire.awardTitleNovel genes causing Familial Hypercholesterolaemia
oaire.awardURIinfo:eu-repo/grantAgreement/FCT/3599-PPCDT/PTDC%2FSAU-GMG%2F101874%2F2008/PT
oaire.citation.conferencePlaceGlasgow, UKpt_PT
oaire.citation.title83rd Congress of the European Atherosclerosis Society (EAS 2015), 22-25 March 2015pt_PT
oaire.fundingStream3599-PPCDT
project.funder.identifierhttp://doi.org/10.13039/501100001871
project.funder.nameFundação para a Ciência e a Tecnologia
rcaap.rightsembargoedAccesspt_PT
rcaap.typeconferenceObjectpt_PT
relation.isProjectOfPublicationf2cced4d-dbf7-43c7-98a7-a370b6dbb952
relation.isProjectOfPublication.latestForDiscoveryf2cced4d-dbf7-43c7-98a7-a370b6dbb952

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