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

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

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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...

Topics

Adult
Animals
COS Cells
Child
Child, Preschool
DNA Mutational Analysis
Genes
Genetic Carrier Screening
Genetic Heterogeneity
Genotype
Humans
Hyperlipoproteinemia Type I
Infant
Infant, Newborn

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Italy

Lipoprotein Lipase

Middle Aged

Mutation

Source

Open in PubMed

Identifiers

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

Genes

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9401010-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.