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

Exome Sequencing,<i>ANGPTL3</i>Mutations, and Familial Combined Hypolipidemia

13 Oct 2010

Abstract excerpt

We sequenced all protein-coding regions of the genome (the "exome") in two family members with combined hypolipidemia, marked by extremely low plasma levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and triglycerides. These two participants were compound heterozygotes for two distinct nonsense mutations in ANGPTL3 (encoding the angiopoietin-like 3 protein). ANGPTL3...

Read the complete abstract on PubMed

Topics

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

Share to Cancer, Lipids, and Metabolism
Share to Diabetes, Cardiovascular Risks, and Lipoproteins
Share to Lipid metabolism and disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 20942659
DOI: 10.1056/nejmoa1002926

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exome Sequencing,<i>ANGPTL3</i>Mutations, and Familial Combined HypolipidemiaPMID 20942659Read ↗

ANGPTL3 Gene Variants in Subjects With Familial Combined HyperlipidemiaSemantic proximity Read ↗

Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.Semantic proximity Read ↗

ANGPTL3 gene variants in subjects with familial combined hyperlipidemia.Semantic proximity Read ↗

Familial combined hypolipidemia: angiopoietin-like protein-3 deficiencySemantic proximity Read ↗

Exome sequencing: new insights into lipoprotein disorders.Semantic proximity Read ↗

ANGPTL3 inhibition, dyslipidemia, and cardiovascular diseases.Semantic proximity Read ↗

Genetic inhibition of angiopoietin-like protein-3, lipoprotein-lipid levels and cardiometabolic diseasesSemantic proximity Read ↗

Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.Semantic proximity Read ↗

ANGPTL3 Deficiency and Protection Against Coronary Artery DiseaseSemantic proximity Read ↗

Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization.Semantic proximity Read ↗

Genetic inhibition of angiopoietin-like protein-3, lipids, and cardiometabolic riskSemantic proximity Read ↗

New insights into ANGPLT3 in controlling lipoprotein metabolism and risk of cardiovascular diseases.Semantic proximity Read ↗

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