Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.

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Article

Apolipoprotein E-4Philadelphia (Glu13----Lys,Arg145----Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia.

The Journal of biological chemistry - 5 Jun 1991

Lohse P, Mann W A, Stein E A, Brewer H B

Abstract excerpt

The molecular defect in a 24-year-old white female with severe type III hyperlipoproteinemia has been elucidated. The patient's apolipoprotein (apo) E migrated in the apoE-4 position on isoelectric focusing gels. On sodium dodecyl sulfate-polyacrylamide gel electrophoresis the apoE-4 variant had...

Topics

Adult
Amino Acid Sequence
Animals
Apolipoprotein E4
Apolipoproteins E
Arginine
Base Sequence
Cystine
DNA
Electrophoresis, Polyacrylamide Gel
Exons
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Glutamine

Humans

Hyperlipoproteinemia Type III

Lysine

Molecular Sequence Data

Mutation

Source

Open in PubMed

Identifiers

PMID: 1674745

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1674745-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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