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 newly identified heterozygous lipoprotein lipase gene mutation (Cys239-->stop/TGC972-->TGA; LPLobama) in a patient with primary type IV hyperlipoproteinemia.

Journal of lipid research - 1 Nov 1994

Takagi A, Ikeda Y, Mori A, Tsutsumi Z, Oida K, Nakai T, Yamamoto A

Abstract excerpt

We investigated measures for identification of heterozygous lipoprotein lipase (LPL) deficiency in unrelated subjects with primary type IV hyperlipoproteinemia in order to acquire a helpful clue for understanding the correlation between hypertriglyceridemia and the status of being a heterozygous carrier of an LPL gene variant. Identification of heterozygous LPL deficiency was performed by monitoring the...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Alleles
Share to Base Sequence

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

Share to DNA Mutational Analysis

Share to Heterozygote

Share to Molecular Sequence Data

Share to Mutation

Source

Identifiers

PMID: 7868979

Genes

LPL

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

A newly identified heterozygous lipoprotein lipase gene mutation (Cys239-->stop/TGC972-->TGA; LPLobama) in a patient with primary type IV hyperlipoproteinemia.PMID 7868979Read ↗

Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.Semantic proximity Read ↗

Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency.Semantic proximity Read ↗

Mutations in the lipoprotein lipase gene as a cause of hypertriglyceridemia and pancreatitis in Taiwan.Semantic proximity Read ↗

Development of a direct DNA sequencing method for detecting heterozygous mutations of the human lipoprotein lipase gene.Semantic proximity Read ↗

Lipoprotein Lipase Deficiency Arising in Type V Dyslipidemia.Semantic proximity Read ↗

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

Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy.Semantic proximity Read ↗

Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants.Semantic proximity Read ↗

Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review.Semantic proximity Read ↗

Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.Semantic proximity Read ↗

Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6Semantic proximity Read ↗

Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.Semantic proximity Read ↗

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