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Article

A novel nonsense mutation in exon 1 and a transition in intron 3 of the lipoprotein lipase gene.

Journal of atherosclerosis and thrombosis - 1 Jan 1996

Nakamura T, Suehiro T, Yasuoka N, Yamamoto M, Ito H, Yamano T, Hashimoto K

Abstract excerpt

We examined the lipoprotein lipase (LPL) gene by single strand conformation polymorphism (SSCP) and by restriction fragment length polymorphism (RFLP) analysis in 106 patients with hypertriglyceridemia to screen for novel mutations and to study the contribution of LPL genetic defects in hypertriglyceridemia. We found a single incidence of a homozygous novel nonsense mutation (216G-->A; -14Tryptophan-->stop codon)...

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Source

Identifiers

PMID: 9225235
DOI: 10.5551/jat1994.3.17

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.

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A novel nonsense mutation in exon 1 and a transition in intron 3 of the lipoprotein lipase gene.PMID 9225235Read ↗

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