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Article

Assessment of French patients with LPL deficiency for French Canadian mutations.

Journal of medical genetics - 1 Aug 1997

Foubert L, De Gennes J L, Lagarde J P, Ehrenborg E, Raisonnier A, Girardet J P, Hayden M R, Benlian P

Abstract excerpt

Mutations in the LPL gene show high levels of allelic heterogeneity between and within different populations. Complete LPL deficiency has a very high prevalence in French Canadians, where only three missense mutations account for > 97% of cases, most consistent with founder mutations introduced early in Quebec by French immigrants. In order to determine whether these mutations were present in France, 12 unrelated...

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Source

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Identifiers

PMID: 9279761
DOI: 10.1136/jmg.34.8.672
PMCID: PMC1051031

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→

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Assessment of French patients with LPL deficiency for French Canadian mutations.PMID 9279761Read ↗

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Geographic distribution and genealogy of mutation 207 of the lipoprotein lipase gene in the French Canadian population of Québec.Semantic proximity Read ↗

Gene polymorphisms in the Quebec population: a risk to develop hypertriglyceridemia.Semantic proximity Read ↗

Prevalence of alleles encoding defective lipoprotein lipase in hypertriglyceridemic patients of French Canadian descent.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 ↗

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 ↗

A mutation in the human lipoprotein lipase gene as the most common cause of familial chylomicronemia in French Canadians.Semantic proximity Read ↗

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

Characterization of a new LCAT mutation causing familial LCAT deficiency (FLD) and the role of APOE as a modifier gene of the FLD phenotype.Semantic proximity Read ↗

Support for founder effect for two lipoprotein lipase (LPL) gene mutations in French Canadians by analysis of GT microsatellites flanking the LPL 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 ↗

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