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Article

Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry.

Atherosclerosis - 1 Jul 2017

Bourbon Mafalda, Alves Ana Catarina, Alonso Rodrigo, Mata Nelva, Aguiar Pedro, Padró Teresa, Mata Pedro

Abstract excerpt

BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is an autosomal dominant disease of cholesterol metabolism that confers an increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Therefore, early identification and treatment of these patients can improve prognosis and reduce the burden of cardiovascular mortality. The aim of this work was to perform the mutational analysis of the...

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PMID: 28475941
DOI: 10.1016/j.atherosclerosis.2017.04.002

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