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Article

Regulatory mutations in the human lipoprotein lipase gene in patients with familial combined hyperlipidemia and coronary artery disease.

Journal of lipid research - 1 Dec 1996

Yang W S, Nevin D N, Iwasaki L, Peng R, Brown B G, Brunzell J D, Deeb S S

Abstract excerpt

We previously reported a compound heterozygote [T(-39)C/T(-93)G] in the human lipoprotein lipase (LPL) gene promoter in one out of 19 patients with familial combined hyperlipidemia (FCHL) and reduced post-heparin plasma LPL levels. The T(-39)C substitution resulted in 85% decrease in LPL promoter activity. Further screening of Caucasian patients with FCHL, coronary artery disease (CAD), and of unselected...

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Share to Coronary Disease
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genes, Regulator

Share to Lipoprotein Lipase

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Share to Promoter Regions, Genetic

Share to Sequence Analysis, DNA

Source

Identifiers

PMID: 9017514

Genes

LPL
CAD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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