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

Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.

Arteriosclerosis, thrombosis, and vascular biology - 1 Mar 2012

Noto Davide, Cefalù Angelo B, Valenti Vincenza, Fayer Francesca, Pinotti Elisa, Ditta Mariangela, Spina Rossella, Vigna Giovanni, Yue Pin, Kathiresan Sekar, Tarugi Patrizia, Averna Maurizio R

Abstract excerpt

OBJECTIVE: Mutations of the ANGPTL3 gene have been associated with a novel form of primary hypobetalipoproteinemia, the combined hypolipidemia (cHLP), characterized by low total cholesterol and low HDL-cholesterol levels. The aim of this work is to define the role of ANGPTL3 gene as determinant of the combined hypolipidemia phenotype in 2 large cohorts of 913 among American and Italian subjects with primary...

Read the complete abstract on PubMed

Topics

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

Share to Angiopoietin-Like Protein 3
Share to Angiopoietin-like Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Angiopoietins

Share to Apolipoproteins B

Share to Cholesterol, HDL

Share to Codon, Nonsense

Share to Hypobetalipoproteinemias

Share to Missouri

Source

Identifiers

PMID: 22247256
DOI: 10.1161/ATVBAHA.111.238766

Genes

ANGPTL3
APOB

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

Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.PMID 22247256Read ↗

Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation.Semantic proximity Read ↗

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

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

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis.Semantic proximity Read ↗

Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia.Semantic proximity Read ↗

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

Recent developments in the genetics of LDL deficiency.Semantic proximity Read ↗

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

Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined HypocholesterolemiaSemantic proximity Read ↗

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

ANGPTL3 serum concentration and rare genetic variants in Finnish population.Semantic proximity Read ↗

Exome Sequencing,<i>ANGPTL3</i>Mutations, and Familial Combined HypolipidemiaSemantic proximity Read ↗

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