Gene Locus : human-LPL
Mode of mutation : Natural mutant
Disease : Hyperlipoproteinemia TypeI
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : 3' splice acceptor site of intron 2 (AG->AA) Compound heterozygote withS271T
| 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 : Hata_1990_Am.J.Hum.Genet_47_721 |
| ESTHER : Hata_1990_Am.J.Hum.Genet_47_721 |
| PubMedSearch : Hata_1990_Am.J.Hum.Genet_47_721 |
| PubMedID: 2121025 |
| Gene_locus related to this paper: human-LPL |