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

A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis.

Lipids in health and disease - 16 Jan 2016

Jiang Jingjing, Wang Yuhui, Ling Yan, Kayoumu Abudurexiti, Liu George, Gao Xin

Abstract excerpt

BACKGROUND: The severe forms of hypertriglyceridemia are usually caused by genetic defects. In this study, we described a Chinese female with severe hypertriglyceridemia caused by a novel homozygous mutation in the APOC2 gene. METHODS: Lipid profiles of the pedigree were studied in detail. LPL and HL activity were also measured. The coding regions of 5 candidate genes (namely LPL, APOC2, APOA5, LMF1, and GPIHBP1)...

Read the complete abstract on PubMed

Topics

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

Share to Apolipoprotein C-II
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heparin

Share to Hypertriglyceridemia

Share to Lipids

Share to Lipoprotein Lipase

Share to Pancreatitis

Share to Recurrence

Source

Open in PubMed Open full text

Identifiers

PMID: 26772541
DOI: 10.1186/s12944-015-0171-6
PMCID: PMC4715280

Genes

APOC2
LPL
APOA5
GPIHBP1
LMF1

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

A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis.PMID 26772541Read ↗

Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.Semantic proximity Read ↗

A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient.Semantic proximity Read ↗

Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis.Semantic proximity Read ↗

Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis.Semantic proximity Read ↗

Clinical features and genetic analysis of three patients with severe hypertriglyceridaemia.Semantic proximity Read ↗

Apolipoprotein C-II: New findings related to genetics, biochemistry, and role in triglyceride metabolism.Semantic proximity Read ↗

A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and PancreatitisSemantic proximity Read ↗

Genetic Variants Associated with Gestational Hypertriglyceridemia and Pancreatitis.Semantic proximity Read ↗

Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia.Semantic proximity Read ↗

Hypertriglyceridaemia due to genetic defects in lipoprotein lipase and apolipoprotein C-II.Semantic proximity Read ↗

Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitisSemantic proximity Read ↗

Two novel mutations of the LPL gene in two Chinese family cases with familial chylomicronemia syndrome.Semantic proximity Read ↗

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