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Article

A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.

Human mutation - 1 Jan 1996

Wiebusch H, Funke H, Santer R, Richter W, Assmann G

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Identifiers

PMID: 8956052
DOI: 10.1002/humu.1380080402

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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

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Research trail→

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A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.PMID 8956052Read ↗

Familial chylomicronemia syndrome: a novel mutation in the lipoprotein lipase gene.Semantic proximity Read ↗

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

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

Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes.Semantic proximity Read ↗

A missense mutation (Trp86----Arg) in exon 3 of the lipoprotein lipase gene: a cause of familial chylomicronemia.Semantic proximity Read ↗

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

Human hepatic lipase mutations and polymorphisms.Semantic proximity Read ↗

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

[Lipoprotein lipase: a multifunctional enzyme in lipoprotein metabolism].Semantic proximity Read ↗

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

A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia).Semantic proximity Read ↗

Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency.Semantic proximity Read ↗

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