A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia.

doi:10.1161/01.cir.97.8.729

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Article

A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia.

Circulation - 3 Mar 1998

Wittekoek M E, Pimstone S N, Reymer P W, Feuth L, Botma G J, Defesche J C, Prins M, Hayden M R, Kastelein J J

Abstract excerpt

BACKGROUND: Recently, a mutation in the lipoprotein lipase (LPL) gene (N291S) has been reported in 2% to 5% of individuals in western populations and is associated with increased triglyceride (TG) and reduced HDL cholesterol (HDLC) concentrations. METHODS AND RESULTS: Here we report a significant...

Topics

Adult
Anthropometry
Body Mass Index
Cardiovascular Diseases
Cholesterol, HDL
Demography
Female
Gene Frequency
Genes
Humans
Hyperlipoproteinemia Type II
Lipoprotein Lipase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lipoproteins

Male

Middle Aged

Mutation

Netherlands

Phenotype

Source

Open in PubMed

Identifiers

PMID: 9498535
DOI: 10.1161/01.cir.97.8.729

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9498535-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia.PMID 9498535Read ↗

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