The impact of cascade screening in familial hypercholesterolemia diagnosis

Familial hypercholesterolemia (FH) is a genetic disorder of cholesterol metabolism caused by mutations in LDLR, APOB and PCSK9 genes. It’s characterized by an increase of total and LDL cholesterol levels leading to premature cardiovascular disease. According to the frequency of the disease in most E...

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Bibliographic Details
Main Author: Gomes, A. (author)
Other Authors: Medeiros, A.M. (author), Leitão, F. (author), Alves, A.C. (author), Bourbon, M. (author)
Format: conferenceObject
Language:eng
Published: 2012
Subjects:
Online Access:http://hdl.handle.net/10400.18/906
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/906