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Article

Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.

Circulation research - 29 Aug 2014

Fouchier Sigrid W, Dallinga-Thie Geesje M, Meijers Joost C M, Zelcer Noam, Kastelein John J P, Defesche Joep C, Hovingh G Kees

Abstract excerpt

RATIONALE: Autosomal-dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and increased risk for coronary vascular disease. ADH is caused by mutations in the low-density lipoprotein receptor, apolipoprotein B, or proprotein convertase subtili...

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Share to Adaptor Proteins, Signal Transducing
Share to Apolipoproteins B
Share to Hyperlipoproteinemia Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25035151
DOI: 10.1161/CIRCRESAHA.115.304660

Genes

STAP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25035151-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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