A Mutation in the Human Lipoprotein Lipase Gene as the Most Common Cause of Familial Chylomicronemia in French Canadians
- 20 June 1991
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 324 (25) , 1761-1766
- https://doi.org/10.1056/nejm199106203242502
Abstract
Lipoprotein lipase hydrolyzes the triglyceride core of chylomicrons and very-low-density lipoproteins and has a crucial role in regulating plasma lipoprotein levels. Deficiencies of lipoprotein lipase activity lead to aberrations in lipoprotein levels. Worldwide, the frequency of lipoprotein lipase deficiency is highest among French Canadians. We sought to determine the molecular basis of the disorder in this population.Keywords
This publication has 21 references indexed in Scilit:
- 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.Journal of Clinical Investigation, 1991
- Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene.Journal of Clinical Investigation, 1991
- Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation.Journal of Clinical Investigation, 1990
- 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.Journal of Clinical Investigation, 1990
- A Vector That Expresses Secreted Proteins on the Cell SurfaceDNA, 1989
- Structure of the human lipoprotein lipase gene [Erratum to document cited in CA110(23):206922a]Biochemistry, 1989
- Structure of the human lipoprotein lipase geneBiochemistry, 1989
- Detection and characterization of the heterozygote state for lipoprotein lipase deficiency.Arteriosclerosis: An Official Journal of the American Heart Association, Inc., 1989
- Human Lipoprotein Lipase Complementary DNA SequenceScience, 1987
- Hypertriglyceridemia Associated with Deficiency of Apolipoprotein C-IINew England Journal of Medicine, 1978