Impact of a common mutation of the LDL receptor gene, in French-Canadian patients with familial hypercholesterolemia, on means, variances and correlations among traits of lipid metabolism.

doi:10.1111/j.1399-0004.1995.tb03925.x

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Article

Impact of a common mutation of the LDL receptor gene, in French-Canadian patients with familial hypercholesterolemia, on means, variances and correlations among traits of lipid metabolism.

Clinical genetics - 1 Feb 1995

Roy M, Sing C F, Betard C, Davignon J

Abstract excerpt

Structural and functional studies of the gene coding for the low density lipoprotein receptor in patients with familial hypercholesterolemia have uncovered over 180 mutant alleles of the gene. Although the classical familial hypercholesterolemia phenotype is well known, the range of phenotypic variability in lipid traits associated with particular mutations in familial hypercholesterolemia has not been...

Topics

Adult
Canada
Cholesterol
Cholesterol, HDL
Cholesterol, LDL
Chromosome Deletion
Female
Heterozygote
Humans
Hyperlipoproteinemia Type II
Lipid Metabolism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Matched-Pair Analysis

Mutation

Phenotype

Receptors, LDL

Triglycerides

Source

Open in PubMed

Identifiers

PMID: 7606845
DOI: 10.1111/j.1399-0004.1995.tb03925.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7606845-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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