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Article

The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity.

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

Nevin D N, Brunzell J D, Deeb S S

Abstract excerpt

Familial combined hyperlipidemia (FCHL) is an oligogenic disorder, with family members having elevated apolipoprotein B-100 levels and either elevated plasma cholesterol or triglyceride levels or both. Obligate heterozygous parents of children with lipoprotein lipase (LPL) deficiency express a mild FCHL phenotype. Of patients with FCHL, 36% have diminished postheparin LPL activity and mass values that are...

Topics

Base Sequence
Blotting, Southern
DNA, Single-Stranded
Exons
Gene Rearrangement
Humans
Hyperlipidemia, Familial Combined
Introns
Lipoprotein Lipase
Mutation
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 8199176
DOI: 10.1161/01.atv.14.6.869

Genes

LPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8199176-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity.PMID 8199176Read ↗

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

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

Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.Semantic proximity Read ↗

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