Functional characterization of LDL receptor gene variants found in patients with clinical diagnosis of familial hypercholesterolaemia

Aim: Familial Hypercholesterolaemia (FH) is an autosomal disorder of lipid metabolism presenting increased cardiovascular risk due to lifelong exposure to high LDL levels. LDLR mutations are the cause of disease in about 90% of the cases, but proof of pathogenicity has only been obtained for about 1...

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Bibliographic Details
Main Author: Alves, A.C. (author)
Other Authors: Graça, R. (author), Abrantes, L. (author), Medeiros, A.M. (author), Queirós, R. (author), Menezes, J. (author), Romão, L. (author), Bourbon, M. (author)
Format: conferenceObject
Language:eng
Published: 2020
Subjects:
Familial Hypercholesterolaemia
Doenças Cardio e Cérebro-vasculares
Online Access:http://hdl.handle.net/10400.18/6659
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6659

Internet

http://hdl.handle.net/10400.18/6659

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