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Article

Next-generation sequencing to confirm clinical familial hypercholesterolemia

27 Jul 2020

Abstract excerpt

Background Familial hypercholesterolemia is characterised by high low-density lipoprotein-cholesterol levels and is caused by a pathogenic variant in LDLR, APOB or PCSK9. We investigated which proportion of suspected familial hypercholesterolemia patients was genetically confirmed, and whether this has changed over the past 20 years in The Netherlands. Methods Targeted next-generation sequencing of 27 genes...

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PMID: 32718233
DOI: 10.1177/2047487320942996

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