Patients with apoE3 deficiency (E2/2, E3/2, and E4/2) who manifest with hyperlipidemia have increased frequency of an Asn 291-->Ser mutation in the human LPL gene.

doi:10.1161/01.atv.15.10.1695

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Article

Patients with apoE3 deficiency (E2/2, E3/2, and E4/2) who manifest with hyperlipidemia have increased frequency of an Asn 291-->Ser mutation in the human LPL gene.

Arteriosclerosis, thrombosis, and vascular biology - 1 Oct 1995

Zhang H, Reymer P W, Liu M S, Forsythe I J, Groenemeyer B E, Frohlich J, Brunzell J D, Kastelein J J, Hayden M R, Ma Y

Abstract excerpt

Approximately 1% to 2% of persons in the general population are homozygous for a lipoprotein receptor-binding defective form of apoE (apoE2/2). However, only a small percentage (2% to 5%) of all apoE2/2 homozygotes develop type III hyperlipoproteinemia. Interaction with other genetic and environm...

Topics

Adolescent
Adult
Aged
Alleles
Apolipoprotein E3
Apolipoproteins E
Base Sequence
Female
Gene Transfer Techniques
Humans
Hyperlipidemias
Lipoprotein Lipase
Male
Middle Aged

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Molecular Sequence Data

Mutagenesis, Site-Directed

Point Mutation

Source

Open in PubMed

Identifiers

PMID: 7583546
DOI: 10.1161/01.atv.15.10.1695

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7583546-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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