ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia.

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Article

ApoB gene nonsense and splicing mutations in a compound heterozygote for familial hypobetalipoproteinemia.

Journal of lipid research - 1 Aug 1991

Huang L S, Kayden H, Sokol R J, Breslow J L

Abstract excerpt

Two novel apoB gene mutations were identified in a patient (CM) with phenotypic homozygous hypobetalipoproteinemia. Haplotype analysis of the apoB alleles from this patient and his family members revealed him to be a genetic compound for the disease. In contrast to previous studies of other hypobetalipoproteinemic patients, no clues existed as to where in the apoB gene the molecular defects resided. Therefore, it...

Topics

Adolescent
Adult
Alleles
Base Sequence
Blotting, Southern
Child
Cholesterol
Cloning, Molecular
Consensus Sequence
Female
Heterozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hypobetalipoproteinemias

Male

Molecular Sequence Data

Mutation

Pedigree

Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 1770316

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1770316-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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