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Title: Portuguese Familial Hypercholesterolemia Study: presentation of the study and preliminary results
Authors: Bourbon, M.
Rato, Q.
Investigadores do Estudo Português de Hipercolesterolemia Familiar
Keywords: Familial hypercholesterolemia
Genetic diagnosis
Low-density lipoprotein receptor
Coronary heart disease
Index case
Doenças Cardio e Cérebro-vasculares
Issue Date: 6-Nov-2006
Publisher: Sociedade Portuguesa de Cardiologia
Citation: Rev Port Cardiol. 2006 Nov;25(11):999-1013.
Abstract: Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder caused, in the majority of cases, by a partial or total lack of functional low density lipoprotein receptors (LDLR). Mutations in the LDLR gene lead to increased plasma cholesterol levels, resulting in cholesterol deposition in the arteries, thereby increasing the risk of premature coronary heart disease. The homozygous form of FH is rare but heterozygous FH is common, although underdiagnosed in many populations, including the Portuguese. In 1999 the Portuguese Familial Hypercholesterolemia Study was begun at the National Institute of Health.
Peer review: yes
ISSN: 0870-2551
Publisher Version:
Appears in Collections:DPSPDNT - Artigos em revistas nacionais

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