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Article

Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.

Clinical genetics - 1 Nov 2020

Rieck Lorenz, Bardey Frieda, Grenkowitz Thomas, Bertram Lars, Helmuth Johannes, Mischung Claudia, Spranger Joachim, Steinhagen-Thiessen Elisabeth, Bobbert Thomas, Kassner Ursula, Demuth Ilja

Abstract excerpt

Autosomal-dominant familial hypercholesterolemia (FH) is characterized by increased plasma concentrations of low-density lipoprotein cholesterol (LDL-C) and a substantial risk to develop cardiovascular disease. Causative mutations in three major genes are known: the LDL receptor gene (LDLR), the apolipoprotein B gene (APOB) and the proprotein convertase subtilisin/kexin 9 gene (PCSK9). We clinically characterized...

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PMID: 32770674
DOI: 10.1111/cge.13826

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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