A missense mutation (Asp250→Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries
- 31 July 1992
- Vol. 13 (3), 649-653
- https://doi.org/10.1016/0888-7543(92)90136-g
Abstract
No abstract availableKeywords
This publication has 9 references indexed in Scilit:
- A Mutation in the Human Lipoprotein Lipase Gene as the Most Common Cause of Familial Chylomicronemia in French CanadiansNew England Journal of Medicine, 1991
- 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.JCI Insight, 1991
- Genetic variants affecting human lipoprotein and hepatic lipasesCurrent Opinion in Lipidology, 1991
- Direct detection and automated sequencing of individual alleles after electrophoretic strand separation: identification of a common nonsense mutation in exon 9 of the human lipoprotein lipase geneNucleic Acids Research, 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.JCI Insight, 1990
- Detection and characterization of the heterozygote state for lipoprotein lipase deficiency.Arteriosclerosis: An Official Journal of the American Heart Association, Inc., 1989
- An LFA-3 cDNA encodes a phospholipid-linked membrane protein homologous to its receptor CD2Nature, 1987
- Hind III RFLP in the lipoprotein lipase gene, (LPL)Nucleic Acids Research, 1987
- Two polymorphisms in the human lipoprotein lipase (LPL) geneNucleic Acids Research, 1987