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Article

Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.

Circulation - 22 Mar 2011

van der Graaf Anouk, Avis Hans J, Kusters D Meeike, Vissers Maud N, Hutten Barbara A, Defesche Joep C, Huijgen Roeland, Fouchier Sigrid W, Wijburg Frits A, Kastelein John J P, Wiegman Albert

Abstract excerpt

BACKGROUND: Autosomal dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and premature cardiovascular disease. Mutations in the genes encoding for low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin 9 (PCSK9) underlie ADH. Nevertheless, a proportion of individuals who exhibit the ADH phenotype do not...

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Share to Adolescent
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Cholesterol, LDL

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Share to Hyperlipoproteinemia Type II

Share to Receptors, LDL

Source

Identifiers

PMID: 21382890
DOI: 10.1161/CIRCULATIONAHA.110.979450

Genes

APOB
LDLR
PCSK9

Provenance

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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