LDLR functional in vitro assays: a step forward for the correct genetic diagnosis of familial hypercholesterolemia

Aim: Familial hypercholesterolaemia (FH) is an autosomal dominant disorder that confers an increased cardiovascular risk, due to high levels of cholesterol in blood since birth. FH has a prevalence of 1:500 and about 90% of these patients have mutations in the LDLR. Although more than 1600 alteratio...

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Bibliographic Details
Main Author: Azevedo, S. (author)
Other Authors: Alves, A.C. (author), Medeiros, A.M. (author), Barros, P. (author), Martín, C. (author), Bourbon, M. (author)
Format: conferenceObject
Language:eng
Published: 2015
Subjects:
Doenças Cardio e Cérebro-vasculares
Familial Hypercholesterolaemia
Online Access:http://hdl.handle.net/10400.18/3065
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/3065

Internet

http://hdl.handle.net/10400.18/3065

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