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Article

Occurrence of species of low-density lipoprotein with defective clearance in patients with primary moderate hypercholesterolaemia.

Journal of internal medicine - 1 Nov 1992

Vega G L, Grundy S M

Abstract excerpt

Recent studies have shown that one cause of primary moderate hypercholesterolaemia is familial defective apolipoprotein B-100 (FDB), a condition in which a mutation in apolipoprotein B-100 (apo B-100) causes low-density lipoproteins (LDL) to bind poorly to LDL receptors. One specific mutation, a glutamine-for-arginine transformation at position 3500 of apo B-100, has been reported to produce FDB. However, other...

Topics

Adult
Apolipoprotein B-100
Apolipoproteins B
Genetic Carrier Screening
Hospitals, Veterans
Humans
Hyperlipoproteinemia Type II
Iodine Radioisotopes
Lipoproteins, LDL
Male
Mass Screening

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mutation

Receptors, LDL

Texas

Source

Identifiers

PMID: 1453124
DOI: 10.1111/j.1365-2796.1992.tb00606.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1453124-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Occurrence of species of low-density lipoprotein with defective clearance in patients with primary moderate hypercholesterolaemia.PMID 1453124Read ↗

Increased clearance of low density lipoprotein precursors in patients with heterozygous familial defective apolipoprotein B-100: a stable isotope approach.Semantic proximity Read ↗

Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia.Semantic proximity Read ↗

Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor.Semantic proximity Read ↗

The affinity of low-density lipoproteins and of very-low-density lipoprotein remnants for the low-density lipoprotein receptor in homozygous familial defective apolipoprotein B-100.Semantic proximity Read ↗

Isolation of allele-specific, receptor-binding-defective low density lipoproteins from familial defective apolipoprotein B-100 subjects.Semantic proximity Read ↗

Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL.Semantic proximity Read ↗

Detection of familial defective apolipoprotein B-100 among patients clinically diagnosed with heterozygous familial hypercholesterolemia in maritime Canada.Semantic proximity Read ↗

Familial defective apolipoprotein B-100. Comparison with familial hypercholesterolemia in 18 cases detected in Munich.Semantic proximity Read ↗

Clinical signs of familial hypercholesterolemia in patients with familial defective apolipoprotein B-100 and normal low density lipoprotein receptor function.Semantic proximity Read ↗

ApoB-75, a truncation of apolipoprotein B associated with familial hypobetalipoproteinemia: genetic and kinetic studies.Semantic proximity Read ↗

Decreased resistance against in vitro oxidation of LDL from patients with familial defective apolipoprotein B-100.Semantic proximity Read ↗

Lipoprotein(a) in subjects with familial defective apolipoprotein B100.Semantic proximity Read ↗

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