Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.

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Article

Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.

American journal of human genetics - 1 Oct 1990

Ludwig E H, McCarthy B J

Abstract excerpt

Haplotype analysis was conducted on the mutant allele of 14 unrelated subjects heterozygous for a mutation in the codon for amino acid 3500 of human apolipoprotein B100. This mutation is associated with defective binding of low-density lipoprotein to the low-density lipoprotein receptor and with moderate hypercholesterolemia. Ten markers were used for haplotyping: eight diallelic markers within the structural...

Topics

Alleles
Apolipoprotein B-100
Apolipoproteins B
Base Sequence
DNA Mutational Analysis
Female
Genetic Markers
Genotype
Haplotypes
Heterozygote
Humans
Hypercholesterolemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Molecular Sequence Data

Mutation

Pedigree

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Source

Open in PubMed Open full text

Identifiers

PMID: 1977310
PMCID: PMC1683798

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1977310-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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