Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia.

doi:10.1111/j.1365-2362.1996.tb02146.x

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Article

Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia.

European journal of clinical investigation - 1 Aug 1996

de Bruin T W, Mailly F, van Barlingen H H, Fisher R, Castro Cabezas M, Talmud P, Dallinga-Thie G M, Humphries S E

Abstract excerpt

The role of the lipoprotein lipase (LPL) gene in familial combined hyperlipidaemia (FCH) is unclear at present. We screened a group of 28 probands with familial combined hyperlipidaemia and a group of 91 population controls for two LPL gene mutations, D9N and N291S. LPL-D9N was found in two proba...

Topics

Adult
Alleles
Apolipoproteins
Body Weight
Cholesterol
Female
Genetic Linkage
Humans
Hyperlipidemia, Familial Combined
Lipolysis
Lipoprotein Lipase
Lipoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lod Score

Male

Middle Aged

Mutation

Nucleic Acid Hybridization

Pedigree

Source

Open in PubMed

Identifiers

PMID: 8872057
DOI: 10.1111/j.1365-2362.1996.tb02146.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8872057-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia.PMID 8872057Read ↗

The lipoprotein lipase (Asn291-->Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia.Semantic proximity Read ↗

The lipoprotein lipase gene in combined hyperlipidemia: evidence of a protective allele depletion.Semantic proximity Read ↗

A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia.Semantic proximity Read ↗

Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia.Semantic proximity Read ↗

Common variants in the lipoprotein lipase gene, but not those in the insulin receptor substrate-1, the beta3-adrenergic receptor, and the intestinal fatty acid binding protein-2 genes, influence the lipid phenotypic expression in familial combined hyperlipidemia.Semantic proximity Read ↗

The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity.Semantic proximity Read ↗

Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women.Semantic proximity Read ↗

Contribution of mutations in low density lipoprotein receptor (LDLR) and lipoprotein lipase (LPL) genes to familial combined hyperlipidemia (FCHL): a reappraisal by using a resequencing approach.Semantic proximity Read ↗

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

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