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

Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.

Clinical genetics - 1 Mar 2006

Brusgaard K, Jordan P, Hansen H, Hansen A B, Hørder M

Abstract excerpt

The lipid disorder familial hypercholesterolemia (FH) predisposes to cardiovascular disease. With a prevalence of approximately one in 500 in the general Caucasian population, FH is one of the most frequent single-gene disorders. As the mutational spectra vary between populations, it is crucial to identify the mutations in a given population in order to implement a molecular genetic screening strategy. A total of...

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 Apolipoproteins B
Share to Denmark

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Hyperlipoproteinemia Type II

Share to Molecular Biology

Share to Mutation

Share to Receptors, LDL

Source

Identifiers

PMID: 16542394
DOI: 10.1111/j.1399-0004.2006.00585.x

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.PMID 16542394Read ↗

Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.Semantic proximity Read ↗

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

Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.Semantic proximity Read ↗

Detecting familial hypercholesterolemia by serum lipid profile screening in a hospital setting: Clinical, genetic and atherosclerotic burden profile.Semantic proximity Read ↗

Molecular diagnosis methods in familial hypercholesterolemia.Semantic proximity Read ↗

Efficacy of clinical diagnostic criteria for familial hypercholesterolemia genetic testing in Poland.Semantic proximity Read ↗

Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.Semantic proximity Read ↗

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

Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype.Semantic proximity Read ↗

Genetic backgrounds and diagnosis of familial hypercholesterolemiaSemantic proximity Read ↗

Genetic diagnosis of familial hypercholesterolemia in Han Chinese.Semantic proximity Read ↗

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