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Article

Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia.

Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Aug 1994

Gagné E, Genest J, Zhang H, Clarke L A, Hayden M R

Abstract excerpt

Familial combined hyperlipidemia (FCHL) is a common lipid disorder characterized by an increase in cholesterol and/or triglyceride levels in multiple individuals of the same family. Prior reports document a decreased activity of lipoprotein lipase (LPL) in FCHL, and studies of the role of LPL in the remodeling of nascent lipoproteins suggest that disturbances in LPL function could underlie FCHL. We studied the...

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Source

Identifiers

PMID: 8049185
DOI: 10.1161/01.atv.14.8.1250

Genes

LPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Analysis of DNA changes in the LPL gene in patients with familial combined hyperlipidemia.PMID 8049185Read ↗

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

The lipoprotein lipase (Asn291-->Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia.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 missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.Semantic proximity Read ↗

Novel mutations of the lipoprotein lipase gene associated with hypertriglyceridemia in members of type 2 diabetic pedigrees.Semantic proximity Read ↗

Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy.Semantic proximity Read ↗

Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.Semantic proximity Read ↗

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

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A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity.Semantic proximity Read ↗

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