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Functionally characterization of the most common LDLR missense alterations found in Portuguese FH patients

2016-05Conference object Restricted access
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dc.contributor.authorAlves, A.C.
dc.contributor.authorAzevedo, S.
dc.contributor.authorBenito-Vicente, A.
dc.contributor.authorEtxebarria, A.
dc.contributor.authorBarros, P.
dc.contributor.authorMedeiros, A.M.
dc.contributor.authorMartín, C.
dc.contributor.authorBourbon, Mafalda
dc.date.accessioned2016-06-21T15:29:13Z
dc.date.available2018-01-01T01:30:11Z
dc.date.issued2016-05
dc.description.abstractAims: Mutations in the LDLR gene are the major cause of familial hypercholesterolaemia (FH), which results in defective catabolism of LDL leading to premature coronary heart disease. Presently, more than 1700 different mutations in the LDLR gene have been described as causing FH but the majority of them remain without functional characterization. In the Portuguese Familial Hypercholesterolemia Study (PFHS), 123 LDLR alterations were found in 243 index patients and their relatives up to date. Until now, 70 of these alterations already have a final classification of pathogenic and 15 have been proved by in vitro studies to be non-pathogenic. The aim of the present work is to functionally characterize 16 LDLR missense alterations found in Portuguese FH patients and worldwide.pt_PT
dc.description.sponsorshipProject grant FCT_PTDC/SAU-GMG/101874/2008; Ana Catarina Alves was funded by FCT_PTDC/SAU-GMG/101874/2008pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.18/3848
dc.language.isoengpt_PT
dc.publisherInstituto Nacional de saúde Doutor Ricardo Jorge, IPpt_PT
dc.relationNovel genes causing Familial Hypercholesterolaemia
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/pt_PT
dc.subjectDoenças Cardio e Cérebro-vascularespt_PT
dc.titleFunctionally characterization of the most common LDLR missense alterations found in Portuguese FH patientspt_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.conferencePlaceInnsbruck, Austriapt_PT
oaire.citation.title84th Congress of the European Atherosclerosis Society (EAS 2016), May 29-1June 2016pt_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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