Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Familial defective apolipoprotein B-100: a lesson from homozygous and heterozygous patients.

Physiological research - 1 Jan 2000

Ceska R, Vrablík M, Horínek A

Abstract excerpt

Familial defective apolipoprotein B-100 (FDB) is a genetic disorder caused by a substitution of glutamine for arginine at residue 3500 of the apolipoprotein B-100 molecule. We have identified 23 heterozygotes and one homozygote for FDB (frequency 1:20) in a group of 510 patients with hypercholesterolemia. Mean age of the patients (18 females and 6 males) was 46 years. The diagnosis of FDB was based on point...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Apolipoprotein B-100
Share to Apolipoproteins B
Share to Cholesterol

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Coronary Disease

Share to Hypercholesterolemia

Share to Hyperlipoproteinemia Type II

Share to Lipoproteins

Share to Triglycerides

Source

Identifiers

PMID: 10984082

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial defective apolipoprotein B-100: a lesson from homozygous and heterozygous patients.PMID 10984082Read ↗

Familial defective apolipoprotein B100: clinical characteristics of 54 cases.Semantic proximity Read ↗

Characteristics of 46 heterozygous carriers and 57 unaffected relatives in five Danish families with familial defective apolipoprotein B-100.Semantic proximity Read ↗

Familial defective apolipoprotein B-100 is clinically indistinguishable from familial hypercholesterolemia.Semantic proximity Read ↗

Rare and common mutations in hyperlipidemia and atherosclerosis. With special reference to familial defective apolipoprotein B-100.Semantic proximity Read ↗

Familial defective apolipoprotein B-100: a common cause of primary hypercholesterolemia.Semantic proximity Read ↗

Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia.Semantic proximity Read ↗

Identification of a heterozygous compound individual with familial hypercholesterolemia and familial defective apolipoprotein B-100.Semantic proximity Read ↗

[Clinical and biochemical characteristics of familial ligand-defective apo B-100 in a South European population].Semantic proximity Read ↗

Familial hypercholesterolemia and familial defective apolipoprotein B-100: comparison of the phenotypic expression In 116 cases.Semantic proximity Read ↗

Familial defective apolipoprotein B-100: A review.Semantic proximity Read ↗

Familial defective apolipoprotein B-100 in Slovakia: are differences in prevalence of familial defective apolipoprotein B-100 explained by ethnicity?Semantic proximity Read ↗

Differences in the phenotypic characteristics of subjects with familial defective apolipoprotein B-100 and familial hypercholesterolemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.