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

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

Human mutation - 1 Jan 1997

Mailly F, Palmen J, Muller D P, Gibbs T, Lloyd J, Brunzell J, Durrington P, Mitropoulos K, Betteridge J, Watts G, Lithell H, Angelico F, Humphries S E, Talmud P J

Abstract excerpt

The aim of this study was to identify mutations in the lipoprotein lipase (LPL) gene in 20 unrelated patients with familial lipoprotein deficiency (FLLD) and to investigate the genotype/phenotype relationship. The previously reported G188E mutation (Monsalve et al., J Clin Invest 86:728-734, 1990) was screened for and found to be present in seven individuals (12/40 alleles). In addition, three patients were...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool

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

Share to DNA Mutational Analysis

Share to Genotype

Share to Infant

Share to Infant, Newborn

Share to Mutation

Source

Identifiers

PMID: 9401010
DOI: 10.1002/(SICI)1098-1004(1997)10:6<465::AID-HUMU8>3.0.CO;2-C

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

Familial lipoprotein lipase (LPL) deficiency: a catalogue of LPL gene mutations identified in 20 patients from the UK, Sweden, and Italy.PMID 9401010Read ↗

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 ↗

A missense (Asp250----Asn) mutation in the lipoprotein lipase gene in two unrelated families with familial lipoprotein lipase deficiency.Semantic proximity Read ↗

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

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

Lipoprotein Lipase: Structure, Function, and Genetic VariationSemantic proximity Read ↗

A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.Semantic proximity Read ↗

Lipoprotein Lipase: Structure, Function, and Genetic VariationSemantic proximity Read ↗

Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations.Semantic proximity Read ↗

Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia.Semantic proximity Read ↗

Novel mutations of the lipoprotein lipase gene associated with hypertriglyceridemia in members of type 2 diabetic pedigrees.Semantic proximity Read ↗

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

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

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