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

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Article

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

Journal of lipid research - 1 Mar 1994

Talmud P J, Krul E S, Pessah M, Gay G, Schonfeld G, Humphries S E, Infante R

Abstract excerpt

We report the characterization of a new truncated apolipoprotein (apo) B, originally identified in the plasma of a homozygous proband and three heterozygous family members with hypobetalipoproteinemia. Using Western blotting, the truncated apoB species was estimated to be 27.5% the size of apoB-100. After fast protein liquid chromatography of plasma from the proband (CD) and mother (OS), the truncated apoB was...

Topics

Adult
Apolipoproteins B
Base Sequence
Blotting, Western
Exons
Heterozygote
Homozygote
Humans
Hypobetalipoproteinemias
Introns
Lipoproteins, LDL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutation

Particle Size

Pedigree

RNA Splicing

Source

Open in PubMed

Identifiers

PMID: 8014581

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8014581-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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