Abstract
Background and Aims: Familial Hypercholesterolaemia (FH) is a monogenic lipid disorder caused by mutations in LDLR, APOB, and PCSK9 genes. However, 50% of individuals with clinical FH do not have a mutation in one of these 3 genes, so other causes for their phenotype must exist. The aim of this work was to characterise the origin of the FH phenotype in a cohort of patients with clinical diagnosis of FH.
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