Phenotypic heterogeneity associated with defective apolipoprotein B-100 and occurrence of the familial hypercholesterolemia phenotype in the absence of an LDL-receptor defect within a Canadian kindred.

doi:10.1007/BF00145344

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Article

Phenotypic heterogeneity associated with defective apolipoprotein B-100 and occurrence of the familial hypercholesterolemia phenotype in the absence of an LDL-receptor defect within a Canadian kindred.

European journal of epidemiology - 1 May 1992

Davignon J, Dufour R, Roy M, Bétard C, Ma Y, Ouellette S, Boulet L, Lussier-Cacan S

Abstract excerpt

Of 163 individuals with a diagnosis of heterozygous familial hypercholesterolemia (FH), only one subject was found to be positive for familial defective apo B-100 (FDB). The eight-member kindred ascertained through this subject who presented with both a clinical phenotype of FH and the FDB apo B-...

Topics

Adult
Aged
Apolipoprotein B-100
Apolipoproteins B
Canada
Cholesterol, LDL
Female
France
Gene Expression Regulation
Heterozygote
Humans
Hyperlipoproteinemia Type II

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lipoproteins, LDL

Male

Middle Aged

Mutation

Pedigree

Phenotype

Source

Open in PubMed

Identifiers

PMID: 1505645
DOI: 10.1007/BF00145344

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1505645-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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