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

Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

Human mutation - 1 Dec 2005

Fouchier Sigrid W, Kastelein John J P, Defesche Joep C

Abstract excerpt

Autosomal-dominant hypercholesterolemia (ADH) has been identified as a major risk factor for coronary vascular disease (CVD) and is associated with mutations in the low-density lipoprotein receptor (LDLR) and the apolipoprotein B (APOB) gene. Since 1991 DNA samples from clinically diagnosed ADH patients have been routinely analyzed for the presence of LDLR and APOB gene mutations. As of 2001, 1,641 index patients...

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 Gene Rearrangement
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Hyperlipoproteinemia Type II

Share to Netherlands

Share to Receptors, LDL

Share to Vascular Diseases

Source

Identifiers

PMID: 16250003
DOI: 10.1002/humu.20256

Genes

APOB
LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Update of the molecular basis of familial hypercholesterolemia in The Netherlands.PMID 16250003Read ↗

The molecular basis of familial hypercholesterolemia in The Netherlands.Semantic proximity Read ↗

Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement.Semantic proximity Read ↗

Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features.Semantic proximity Read ↗

Successful Genetic Screening and Creating Awareness of Familial Hypercholesterolemia and Other Heritable Dyslipidemias in the NetherlandsSemantic proximity Read ↗

Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families.Semantic proximity Read ↗

Molecular genetic background of an autosomal dominant hypercholesterolemia in the Czech Republic.Semantic proximity Read ↗

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.Semantic proximity Read ↗

Molecular spectrum of autosomal dominant hypercholesterolemia in France.Semantic proximity Read ↗

Screening and treatment of familial hypercholesterolemia - Lessons from the past and opportunities for the future (based on the Anitschkow Lecture 2014).Semantic proximity Read ↗

New Horizons in the Pathogenesis, Pathophysiology and Treatment of Familial HypercholesterolaemiaSemantic proximity Read ↗

Molecular basis of familial hypercholesterolemiaSemantic proximity Read ↗

Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993-2020.Semantic proximity Read ↗

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