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Article

Dysbetalipoproteinemia in a kindred with hypobetalipoproteinemia due to mutations in the genes for ApoB (ApoB-70.5) and ApoE (ApoE2).

Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Nov 1994

Groenewegen W A, Krul E S, Averna M R, Pulai J, Schonfeld G

Abstract excerpt

We identified the first insertion mutation that specifies an apolipoprotein (apo)B truncation, apoB-70.5, in a father and son with hypobetalipoproteinemia (total and low-density lipoprotein [LDL] cholesterol < 5th percentile, plasma apoB levels approximately one third of normal). The mutation is due to insertion of an adenine (A) into a 7-A repeat between cDNA position 9754 and 9760 of the apoB gene, resulting in...

Read the complete abstract on PubMed

Topics

Adult
Aged
Apolipoproteins B
Apolipoproteins E
Base Sequence
Female

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Genes

Humans

Hyperlipoproteinemia Type III

Hypobetalipoproteinemias

Lipids

Male

Middle Aged

Molecular Probes

Molecular Sequence Data

Mutation

Source

Identifiers

PMID: 7947592
DOI: 10.1161/01.atv.14.11.1695

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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Dysbetalipoproteinemia in a kindred with hypobetalipoproteinemia due to mutations in the genes for ApoB (ApoB-70.5) and ApoE (ApoE2).PMID 7947592Read ↗

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