Influence of different type of mutations in the biochemical profile of Portuguese patients with familial hypercholesterolemia

Familial Hypercholesterolemia (FH) is characterized by high levels of LDLc in plasma, accelerated atherosclerosis and increased risk of premature coronary heart disease. FH results from mutations in three genes involved in lipid metabolism: LDLR, APOB, PCSK9. It is known that FH patients’ phenotype...

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Bibliographic Details
Main Author: Medeiros, A.M. (author)
Other Authors: Alves, A.C. (author), Bourbon, M. (author)
Format: conferenceObject
Language:eng
Published: 2012
Subjects:
Online Access:http://hdl.handle.net/10400.18/393
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/393