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Article

A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia.

The Journal of clinical investigation - 1 May 1991

Welty F K, Hubl S T, Pierotti V R, Young S G

Abstract excerpt

We describe a kindred in which the proband and 6 of his 12 children have hypobetalipoproteinemia. The plasma lipoproteins of the affected subjects contained a unique species of apolipoprotein (apo) B, apo B67, in addition to the normal species, apo B100 and apo B48. The size of apo B67 and immunochemical studies with a panel of apo B-specific antibodies indicated that apo B67 was a truncated species of apo B that...

Topics

Adult
Aged
Aged, 80 and over
Apolipoproteins B
Base Sequence
Cholesterol, HDL
Female
Humans
Hypobetalipoproteinemias
Lipoproteins
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Receptors, LDL

Source

Open in PubMed Open full text

Identifiers

PMID: 2022744
DOI: 10.1172/JCI115193
PMCID: PMC295283

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2022744-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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A truncated species of apolipoprotein B (B67) in a kindred with familial hypobetalipoproteinemia.PMID 2022744Read ↗

Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31). A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the formation of buoyant, triglyceride-rich lipoproteins.Semantic proximity Read ↗

Two distinct truncated apolipoprotein B species in a kindred with hypobetalipoproteinemia.Semantic proximity Read ↗

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Donor splice mutation generates a lipid-associated apolipoprotein B-27.6 in a patient with homozygous hypobetalipoproteinemia.Semantic proximity Read ↗

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ApoB-54.8, a truncated apolipoprotein found primarily in VLDL, is associated with a nonsense mutation in the apoB gene and hypobetalipoproteinemia.Semantic proximity Read ↗

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