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 : p.Y289H Tyr289His TAC->CAC (Y262H Tyr269His in the mature protein) no enzyme activity. A patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His)
| Title : Homozygosity for two point mutations in the lipoprotein lipase (LPL) gene in a patient with familial LPL deficiency: LPL(Asp9-->Asn, Tyr262-->His) - Rouis_1996_J.Lipid.Res_37_651 |
| Author(s) : Rouis M , Lohse P , Dugi KA , Beg OU , Ronan R , Talley GD , Brunzell JD , Santamarina-Fojo S |
| Ref : J Lipid Res , 37 :651 , 1996 |
| Abstract : Rouis_1996_J.Lipid.Res_37_651 |
| ESTHER : Rouis_1996_J.Lipid.Res_37_651 |
| PubMedSearch : Rouis_1996_J.Lipid.Res_37_651 |
| PubMedID: 8728326 |