Publicação
Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment
| dc.contributor.author | Benito-Vicente, A. | |
| dc.contributor.author | Etxebarria, A. | |
| dc.contributor.author | Alves, A.C. | |
| dc.contributor.author | Bourbon, M. | |
| dc.contributor.author | Martin, C. | |
| dc.date.accessioned | 2015-02-17T13:15:09Z | |
| dc.date.available | 2015-02-17T13:15:09Z | |
| dc.date.issued | 2014-05 | |
| dc.description.abstract | 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. | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/2869 | |
| dc.language.iso | eng | por |
| dc.subject | Doenças Cardio e Cérebro-vasculares | por |
| dc.subject | Familial Hypercholesterolemia | por |
| dc.subject | LDLR gene | por |
| dc.title | Advantages and versatility of fluorescence-based methodology to characterize the functionality of LDLR and class mutation assignment | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Madrid, Spain | por |
| oaire.citation.title | 82nd Congress of the European Atherosclerosis Society, May 31st–June 3rd 2014 | por |
| rcaap.rights | embargoedAccess | por |
| rcaap.type | conferenceObject | por |
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