Benito-Vicente, A.Etxebarria, A.Alves, A.C.Bourbon, M.Martin, C.2015-02-172015-02-172014-05http://hdl.handle.net/10400.18/2869INTRODUCTION: 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.engDoenças Cardio e Cérebro-vascularesFamilial HypercholesterolemiaLDLR geneconference object