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Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment

2014-05Conference object Restricted access
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dc.contributor.authorBenito-Vicente, A.
dc.contributor.authorEtxebarria, A.
dc.contributor.authorAlves, A.C.
dc.contributor.authorBourbon, M.
dc.contributor.authorMartin, C.
dc.date.accessioned2015-02-17T13:15:09Z
dc.date.available2015-02-17T13:15:09Z
dc.date.issued2014-05
dc.description.abstractINTRODUCTION: Familial hypercholesterolemia (FH) is a common autosomal dominant disease with a frequency of 1:500 individuals in its heterozygous form. The genetic basis of FH is mostly mutations within the LDLR gene. Assessing the pathogenicity of LDLR variants is particularly important to give a patient a definitive diagnosis of FH. Current studies of LDLR activity ex vivo are based on the analysis of 125I-labeled lipoproteins or fluorescent-labeled LDL. The main purpose of this study was to compare the effectiveness of these two methods to assess LDLR functionality in order to validate a functional assay to analyse LDLR mutations.por
dc.identifier.urihttp://hdl.handle.net/10400.18/2869
dc.language.isoengpor
dc.subjectDoenças Cardio e Cérebro-vascularespor
dc.subjectFamilial Hypercholesterolemiapor
dc.subjectLDLR genepor
dc.titleAdvantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignmentpor
dc.typeconference object
dspace.entity.typePublication
oaire.citation.conferencePlaceMadrid, Spainpor
oaire.citation.title82nd Congress of the European Atherosclerosis Society, May 31st–June 3rd 2014por
rcaap.rightsembargoedAccesspor
rcaap.typeconferenceObjectpor

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