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Article

Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.

The Journal of clinical investigation - 1 Apr 1991

Ameis D, Kobayashi J, Davis R C, Ben-Zeev O, Malloy M J, Kane J P, Lee G, Wong H, Havel R J, Schotz M C

Abstract excerpt

Complete deficiency of lipoprotein lipase (LPL) causes the chylomicronemia syndrome. To understand the molecular basis of LPL deficiency, two siblings with drastically reduced postheparin plasma lipolytic activities were selected for analysis of their LPL gene. We used the polymerase chain reaction to examine the nine coding LPL exons in the two affected siblings and three relatives. DNA sequence analysis...

Topics

Amino Acid Sequence
Base Sequence
Genes
Humans
Hyperlipoproteinemia Type I
Lipoprotein Lipase
Molecular Sequence Data
Mutation
Oligonucleotides
Pedigree
Polymerase Chain Reaction

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Structure-Activity Relationship

Source

Open in PubMed Open full text

Identifiers

PMID: 2010533
DOI: 10.1172/JCI115114
PMCID: PMC295125

Genes

LPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2010533-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.PMID 2010533Read ↗

A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).Semantic proximity Read ↗

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