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Article

A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.

American journal of human genetics - 1 Jun 1992

Ishimura-Oka K, Faustinella F, Kihara S, Smith L C, Oka K, Chan L

Abstract excerpt

We have investigated a patient of English ancestry with familial chylomicronemia caused by lipoprotein lipase (LPL) deficiency. DNA sequence analysis of all exons and intron-exon boundaries of the LPL gene identified two single-base mutations, a T----C transition for codon 86 (TGG) at nucleotide...

Topics

Amino Acid Sequence
Arginine
Base Sequence
Chylomicrons
Cloning, Molecular
Codon
DNA
Exons
Female
Humans
Hyperlipoproteinemia Type I
Introns
Lipoprotein Lipase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutation

Pedigree

Restriction Mapping

Source

Open in PubMed Open full text

Identifiers

PMID: 1598907
PMCID: PMC1682574

Genes

LPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1598907-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.PMID 1598907Read ↗

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