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Article

The Asn-291-->Ser and Ser-477-->Stop mutations of the lipoprotein lipase gene and their significance for lipid metabolism in patients with hypertriglyceridaemia.

European journal of clinical investigation - 1 Nov 1997

Knudsen P, Murtomäki S, Antikainen M, Ehnholm S, Lahdenperä S, Ehnholm C, Taskinen M R

Abstract excerpt

We examined 99 Finnish patients whose serum fasting triglycerides (TG) had exceeded 6.0 mmol L-1 with special interest to their lipid, lipoprotein and post-heparin plasma lipase activities. The control group consisted of 75 healthy individuals. We also determined the frequency of the Asn-291-->Ser and Ser-447-->Stop mutations both in hypertriglyceridaemic (HTG) subjects and in control subjects. A total of 51 of...

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Source

Identifiers

PMID: 9395789
DOI: 10.1046/j.1365-2362.1997.2190767.x

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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Research trail→

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The Asn-291-->Ser and Ser-477-->Stop mutations of the lipoprotein lipase gene and their significance for lipid metabolism in patients with hypertriglyceridaemia.PMID 9395789Read ↗

Pathogenic mutations of the lipoprotein lipase gene in Chinese patients with hypertriglyceridemic type 2 diabetes.Semantic proximity Read ↗

Interaction of the lipoprotein lipase asparagine 291-->serine mutation with body mass index determines elevated plasma triacylglycerol concentrations: a study in hyperlipidemic subjects, myocardial infarction survivors, and healthy adults.Semantic proximity Read ↗

A common substitution (Asn291Ser) in lipoprotein lipase is associated with increased risk of ischemic heart disease.Semantic proximity Read ↗

[Lipoprotein lipase--physiological and pathophysiological roles of this gene variant in Croatian population].Semantic proximity Read ↗

The g.-469G>A polymorphism in the GPIHBP1 gene promoter is associated with hypertriglyceridemia and has an additive effect on the risk conferred by LPL defective alleles.Semantic proximity Read ↗

Lipoprotein lipase activity and common gene variants in severely hypertriglyceridemic patients with and without diabetes.Semantic proximity Read ↗

Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis.Semantic proximity Read ↗

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

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

Delayed clearance of postprandial large TG-rich particles in normolipidemic carriers of LPL Asn291Ser gene variant.Semantic proximity Read ↗

Multiple microRNA regulation of lipoprotein lipase gene abolished by 3'UTR polymorphisms in a triglyceride-lowering haplotype harboring p.Ser474Ter.Semantic proximity Read ↗

Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.Semantic proximity Read ↗

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