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Article

Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event.

American journal of medical genetics - 24 Jul 1998

Henderson H E, Bijvoet S M, Mannens M A, Bruin T, Erkelens D W, Hayden M R, Kastelein J J

Abstract excerpt

Mutations in the lipoprotein lipase (LPL) gene are the most important cause of familial chylomicronemia with over 70 mutations being recorded to date. Thus far de novo mutations have not been described. Here we report on the molecular analysis of the family of a patient previously reported to be LPL deficient on the basis of compound heterozygosity for the Arg243His and Ile225Thr mutations, the latter being the...

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Source

Identifiers

PMID: 9714430
DOI: 10.1002/(sici)1096-8628(19980724)78:4<313::aid-ajmg1>3.0.co;2-m

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ile225Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event.PMID 9714430Read ↗

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

Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene.Semantic proximity Read ↗

Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.Semantic proximity Read ↗

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

New mutations in the lipoprotein lipase gene in a young boy with chylomicronaemia syndrome and in his family.Semantic proximity Read ↗

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

Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) 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 ↗

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

Common mutations of the lipoprotein lipase gene and their clinical significance.Semantic proximity Read ↗

[A case of neonatal lipoprotein lipase deficiency caused by novel compound heterozygous variants of LPL gene].Semantic proximity Read ↗

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