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.

Journal of clinical lipidology - 1 Jan 2000

Andersen Lars H, Miserez André R, Ahmad Zahid, Andersen Rolf L

Abstract excerpt

Familial defective apolipoprotein B-100 (FDB) is an autosomal dominant genetic disorder of lipid metabolism associated with hyperlipidemia and elevated risk for atherosclerosis. FDB is caused by mutations in APOB reducing the binding affinity between apolipoprotein B-100 and the low-density lipoprotein receptor. Population studies suggest that approximately 0.1% of Northern Europeans and US Caucasians carries the...

Read the complete abstract on PubMed

Topics

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

Share to Cholesterol, LDL
Share to APOB gene
Share to LDLR gene

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

Share to Apolipoprotein B-100

Share to Hyperlipoproteinemia Type II

Share to Polymorphism, Single Nucleotide

Share to Receptors, LDL

Source

Identifiers

PMID: 27919345
DOI: 10.1016/j.jacl.2016.09.009

Genes

APOB
LDLR

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.PMID 27919345Read ↗

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

Familial defective apolipoprotein B-100: molecular basis, prevalence and clinical features.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 single mutation that causes hypercholesterolemia and premature coronary artery disease.Semantic proximity Read ↗

Lipid disorders and mutations in the APOB gene.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 ↗

Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.Semantic proximity Read ↗

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

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

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

Major apolipoprotein B-100 mutations in lipoprotein metabolism and atherosclerosis.Semantic proximity Read ↗

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