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

Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217.

European heart journal - 1 May 2016

Benn Marianne, Watts Gerald F, Tybjærg-Hansen Anne, Nordestgaard Børge G

Abstract excerpt

AIMS: Ideally, familial hypercholesterolaemia (FH) is diagnosed by testing for mutations that decrease the catabolism of low-density lipoprotein (LDL) cholesterol; however, genetic testing is not universally available. The aim of the present study was to assess the frequency and predictors of FH causing mutations in 98 098 participants from the general population, the Copenhagen General Population Study. METHODS...

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to LDLR gene

Share to Genetic Testing

Share to Hyperlipoproteinemia Type II

Share to Mutation

Share to Prevalence

Share to Receptors, LDL

Source

Identifiers

PMID: 26908947
DOI: 10.1093/eurheartj/ehw028

Genes

APOB
LDLR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217.PMID 26908947Read ↗

The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes.Semantic proximity Read ↗

Familial Hypercholesterolemia: Prevalence and Discrepancy between Genotype and Phenotype. Findings of the Population-based Hamburg City Health Study.Semantic proximity Read ↗

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic.Semantic proximity Read ↗

Frequency of familial hypercholesterolaemia-causing genetic variants in the 100 000 Genomes Project cohort: whole genome sequencing analyses of 77 260 participants.Semantic proximity Read ↗

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

Genetic Spectrum of Familial Hypercholesterolaemia in the Malaysian Community: Identification of Pathogenic Gene Variants Using Targeted Next-Generation Sequencing.Semantic proximity Read ↗

Expanding the genetic spectrum for Chinese familial hypercholesterolemia population with six genetic mutations identified using a next-generation sequencing-based laboratory-developed screening test.Semantic proximity Read ↗

Next-generation sequencing to confirm clinical familial hypercholesterolemiaSemantic proximity Read ↗

The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 SubjectsSemantic proximity Read ↗

[Familial hypercholesterolemia: epidemiology, genetics, diagnosis, and screening].Semantic proximity Read ↗

Variants in LPA are associated with familial hypercholesterolaemia: whole genome sequencing analysis in the 100 000 Genomes Project.Semantic proximity Read ↗

Next-generation sequencing to confirm clinical familial hypercholesterolemia.Semantic proximity Read ↗

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