Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia.

doi:10.1161/01.atv.17.5.826

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Article

Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia.

Arteriosclerosis, thrombosis, and vascular biology - 1 May 1997

Pimstone S N, Defesche J C, Clee S M, Bakker H D, Hayden M R, Kastelein J J

Abstract excerpt

Familial defective apolipoprotein B-100 (FDB) is a dominantly inherited genetic disorder resulting from a point mutation in the apolipoprotein (apo) B gene and is associated with significantly elevated plasma total and LDL cholesterol levels. Despite numerous descriptions outlining the phenotype...

Topics

Adolescent
Adult
Aging
Apolipoprotein B-100
Apolipoproteins B
Child
Child, Preschool
Cholesterol
Cholesterol, HDL
Cholesterol, LDL
Female
Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Hyperlipoproteinemia Type II

Male

Netherlands

Phenotype

Point Mutation

Source

Open in PubMed

Identifiers

PMID: 9157944
DOI: 10.1161/01.atv.17.5.826

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9157944-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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