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DIFFERENCES IN PREVALENCE OF PHENOTYPICALLY AND GENOTYPICALLY ASCERTAINED FAMILIAL HYPERCHOLESTEROLEMIA IN A COHORT WITH HYPERCHOLESTEROLEMIA

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Familial hypercholesterolemia (FH) is an autosomal dominant disorder most often resulting from pathogenic variants in LDLR, APOB and PCSK9. We assessed differences in prevalence of FH ascertained based on: a)… Click to show full abstract

Familial hypercholesterolemia (FH) is an autosomal dominant disorder most often resulting from pathogenic variants in LDLR, APOB and PCSK9. We assessed differences in prevalence of FH ascertained based on: a) phenotype i.e. Dutch Lipid Clinic Network (DLCN) criteria, and b) genotype i.e. pathogenic

Keywords: phenotypically genotypically; hypercholesterolemia; prevalence phenotypically; differences prevalence; familial hypercholesterolemia

Journal Title: Journal of the American College of Cardiology
Year Published: 2018

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