Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/2869
Título: Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment
Autor: Benito-Vicente, A.
Etxebarria, A.
Alves, A.C.
Bourbon, M.
Martin, C.
Palavras-chave: Doenças Cardio e Cérebro-vasculares
Familial Hypercholesterolemia
LDLR gene
Data: Mai-2014
Resumo: INTRODUCTION: 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.
URI: http://hdl.handle.net/10400.18/2869
Aparece nas colecções:DPSPDNT - Posters/abstracts em congressos internacionais

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