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

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

Clinica chimica acta; international journal of clinical chemistry - 1 Oct 2021

Wang Mingying, Zhou Yuantao, He Xiaoli, Deng Chengjun, Liu Xiaoning, Li Juan, Zhou Lin, Li Ying, Zhang Yu, Liu Haifeng, Li Li

Abstract excerpt

The aim of this study was to investigate the clinical features and genetic causes of two family cases with familial chylomicronemia syndrome (FCS). Clinical manifestations of proband 1 and her families, and also proband 2 showed severe hypertriglyceridemia, especially the triglycerides levels of two probands were extremely high. Gene sequencing results showed that the LPL genes in each of the two probands had a...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to Hyperlipoproteinemia Type I

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Hypertriglyceridemia

Share to Lipoprotein Lipase

Share to Mutation

Source

Identifiers

PMID: 34324844
DOI: 10.1016/j.cca.2021.07.022

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two novel mutations of the LPL gene in two Chinese family cases with familial chylomicronemia syndrome.PMID 34324844Read ↗

Familial chylomicronemia syndrome caused by compound heterozygous mutation of lipoprotein lipase gene: A case report and review of literature.Semantic proximity Read ↗

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

Molecular and functional characterization of familial chylomicronemia syndrome.Semantic proximity Read ↗

Clinical, biochemical and molecular analysis of two infants with familial chylomicronemia syndrome.Semantic proximity Read ↗

Comprehensive analysis of Chinese patients with non-LPL familial chylomicronemia syndrome: Genetic variants, dietary interventions, and clinical insights.Semantic proximity Read ↗

Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases.Semantic proximity Read ↗

Familial Chylomicronemia Syndrome With a Novel Homozygous LPL Mutation Identified in Three Siblings in Their 50s.Semantic proximity Read ↗

A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia.Semantic proximity Read ↗

The familial chylomicronemia syndrome.Semantic proximity Read ↗

Clinical features and functions of a novel Lpl mutation C.986A>C (p.Y329S) in patient with hypertriglyceridemia.Semantic proximity Read ↗

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

Molecular mechanisms, prevalence, and molecular methods for familial combined hyperlipidemia disease: A reviewSemantic proximity Read ↗

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