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 review, including some comparisons with familial hypercholesterolaemia.

Atherosclerosis - 1 Dec 1993

Myant N B

Abstract excerpt

Familial defective apolipoprotein B-100 (FDB) is a dominantly inherited disorder caused by the substitution of glutamine for arginine at position 3500 in apo B-100. The presence of mutant apo B-100 in low-density lipoproteins (LDL) markedly reduces their affinity for the LDL receptor, leading to hypercholesterolaemia and increased proneness to coronary artery disease. In some FDB heterozygotes the clinical...

Read the complete abstract on PubMed

Topics

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

Share to Apolipoproteins B
Share to Cholesterol
Share to Coronary Disease

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

Share to Diagnosis, Differential

Share to Heterozygote

Share to Mutation

Share to Pedigree

Share to Risk Factors

Source

Identifiers

PMID: 8141833
DOI: 10.1016/0021-9150(93)90171-p

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 review, including some comparisons with familial hypercholesterolaemia.PMID 8141833Read ↗

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

Familial defective apolipoprotein B-100: molecular basis, prevalence and clinical features.Semantic proximity Read ↗

Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease.Semantic proximity Read ↗

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

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

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

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

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

Familial defective apolipoprotein B-100.Semantic proximity Read ↗

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

Lipid disorders and mutations in the APOB gene.Semantic proximity Read ↗

Apolipoprotein B gene mutations affecting cholesterol levels.Semantic proximity Read ↗

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