Serum low density lipoprotein cholesterol level and cholesterol absorption efficiency are influenced by apolipoprotein B and E polymorphism and by the FH-Helsinki mutation of the low density lipoprotein receptor gene in familial hypercholesterolemia.

doi:10.1161/01.atv.11.5.1368

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Article

Serum low density lipoprotein cholesterol level and cholesterol absorption efficiency are influenced by apolipoprotein B and E polymorphism and by the FH-Helsinki mutation of the low density lipoprotein receptor gene in familial hypercholesterolemia.

Arteriosclerosis and thrombosis : a journal of vascular biology - 1 Jan 2000

Gylling H, Aalto-Setälä K, Kontula K, Miettinen T A

Abstract excerpt

The aim of the present study was to evaluate the effect of variation of different gene loci separately and in concert on lipid metabolism in heterozygous familial hypercholesterolemia (FH). We assayed a unique low density lipoprotein (LDL) receptor gene defect (designated as FH-Helsinki), the XbaI polymorphism of the apolipoprotein (apo) B, phenotypes of the apo E, and determined the levels of serum lipoproteins,...

Topics

Adolescent
Adult
Apolipoproteins B
Apolipoproteins E
Cholesterol
Cholesterol, HDL
Cholesterol, LDL
Coronary Disease
Female
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Hyperlipoproteinemia Type II

Male

Middle Aged

Mutation

Phenotype

Polymorphism, Genetic

Prevalence

Receptors, LDL

Source

Open in PubMed

Identifiers

PMID: 1911722
DOI: 10.1161/01.atv.11.5.1368

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1911722-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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