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

Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes?

Clinical genetics - 1 Apr 2020

Page Michael M, Bell Damon A, Watts Gerald F

Abstract excerpt

Familial hypercholesterolaemia (FH) is caused by pathogenic variants in LDLR, APOB or PCSK9. Impaired low-density lipoprotein (LDL) receptor function leads to decreased LDL catabolism and premature atherosclerotic cardiovascular disease (ASCVD). Thousands of LDLR variants are known, but assignation of pathogenicity requires accurate phenotyping, family studies and assessment of LDL receptor function. Precise,...

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 Atherosclerosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholesterol

Share to Genetic Testing

Share to Hyperlipoproteinemia Type II

Share to Lipoproteins, LDL

Share to Proprotein Convertase 9

Share to Receptors, LDL

Source

Identifiers

PMID: 31833051
DOI: 10.1111/cge.13685

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

Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes?PMID 31833051Read ↗

The Present and the Future of Genetic Testing in Familial Hypercholesterolemia: Opportunities and Caveats.Semantic proximity Read ↗

Genetic Testing and Risk Scores: Impact on Familial HypercholesterolemiaSemantic proximity Read ↗

Beyond the Usual Suspects: Expanding on Mutations and Detection for Familial Hypercholesterolemia.Semantic proximity Read ↗

The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype.Semantic proximity Read ↗

Genetic testing for familial hypercholesterolemia—past, present, and futureSemantic proximity Read ↗

Recent advances in genetic testing for familial hypercholesterolemia.Semantic proximity Read ↗

Genetic testing for familial hypercholesterolemiaSemantic proximity Read ↗

Familial Hypercholesterolaemia in the Era of Genetic Testing.Semantic proximity Read ↗

Genotype-guided diagnosis in familial hypercholesterolemia: population burden and cascade screening.Semantic proximity Read ↗

Genetic Architecture of Familial Hypercholesterolaemia.Semantic proximity Read ↗

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.Semantic proximity Read ↗

Prevalence and penetrance of pathogenic and likely pathogenic LDLR and APOB gene variants linked to familial hypercholesterolemia and increased risk of ischemic heart diseaseSemantic proximity Read ↗

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