| Title : Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene - Hata_1990_Am.J.Hum.Genet_47_721 |
| Author(s) : Hata A , Emi M , Luc G , Basdevant A , Gambert P , Iverius PH , Lalouel JM |
| Ref : American Journal of Human Genetics , 47 :721 , 1990 |
|
Abstract :
Cloning and sequencing of translated exons and intron-exon boundaries of the lipoprotein lipase gene in a patient of French descent who has the chylomicronemia syndrome revealed that he was a compound heterozygote for two nucleotide substitutions. One (TCC----ACC) leads to an amino acid substitution (Ser----Thr244), while the other alters the 3' splice site of intron 2 (AG----AA). The functional significance of the Thr244 amino acid substitution was established by in vitro expression in cultured mammalian cells. |
| PubMedSearch : Hata_1990_Am.J.Hum.Genet_47_721 |
| PubMedID: 2121025 |
| Gene_locus related to this paper: human-LPL |
| Mutation | S271T_human-LPL IVS2-1G>A_human-LPL |
| Gene_locus | human-LPL |
| Disease | Hyperlipoproteinemia TypeI |
Hata A, Emi M, Luc G, Basdevant A, Gambert P, Iverius PH, Lalouel JM (1990)
Compound heterozygote for lipoprotein lipase deficiency: Ser----Thr244 and transition in 3' splice site of intron 2 (AG----AA) in the lipoprotein lipase gene
American Journal of Human Genetics
47 :721
Hata A, Emi M, Luc G, Basdevant A, Gambert P, Iverius PH, Lalouel JM (1990)
American Journal of Human Genetics
47 :721