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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...

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Identifiers

PMID: 1977310
PMCID: PMC1683798

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.PMID 1977310Read ↗

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