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Further evidence of novel APOB mutations as a cause of Familial Hypercholesterolemia

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dc.contributor.authorAlves, A.C.
dc.contributor.authorEtxebarria, A
dc.contributor.authorBenito-Vicente, A.
dc.contributor.authorMartin, C.
dc.contributor.authorBourbon, Mafalda
dc.date.accessioned2016-02-17T13:54:03Z
dc.date.available2016-02-17T13:54:03Z
dc.date.issued2015-03
dc.description.abstractFamilial hypercholesterolaemia (FH) is an autosomal dominant disorder of cholesterol metabolism. Loss of function mutations in LDLR and APOB and also gain of function mutations in PCSK9 have been associated with FH, but mutations in LDLR are the most common cause of FH. Until 2012 only mutations in two small fragments of exon 26 and 29 were described as causing FH. In the last 2 years functional mutations in other fragments of exon 26 and 29 as well as in exon 3 and 22 have been reported in FH patients. However with Next Generation Sequencing techniques others alterations in fragments not studied in routine diagnosis are being found and need to be functional characterized. The main aim of this project was to characterize 2 novel alterations in APOB, exon 19 and 26, in order to identify the genetic cause of the hypercholesterolemia in these patients.pt_PT
dc.description.sponsorshipAcknowledgements: project grant FCT_PTDC/SAU-GMG/101874/2008; Ana Catarina Alves was funded by FCT SFRH / BD / 27990 / 2006 and FCT_PTDC/SAU-GMG/101874/2008pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/3373
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.titleFurther evidence of novel APOB mutations as a cause of Familial Hypercholesterolemiapt_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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