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

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 p...

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Bibliographic Details
Main Author: Benito-Vicente, A. (author)
Other Authors: Etxebarria, A. (author), Alves, A.C. (author), Bourbon, M. (author), Martin, C. (author)
Format: conferenceObject
Language:eng
Published: 2015
Subjects:
Doenças Cardio e Cérebro-vasculares
Familial Hypercholesterolemia
LDLR gene
Online Access:http://hdl.handle.net/10400.18/2869
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/2869

Internet

http://hdl.handle.net/10400.18/2869

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