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.Gly256ThrfsTer26 p.G256TfsX26 c.765_766delAG (Gly229ThrfsTer26 G229TfsX26 in the mature protein) two base pair deletion
| Title : Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia - Pingitore_2016_J.Clin.Lipidol_10_816 |
| Author(s) : Pingitore P , Lepore SM , Pirazzi C , Mancina RM , Motta BM , Valenti L , Berge KE , Retterstol K , Leren TP , Wiklund O , Romeo S |
| Ref : J Clin Lipidol , 10 :816 , 2016 |
| Abstract : Pingitore_2016_J.Clin.Lipidol_10_816 |
| ESTHER : Pingitore_2016_J.Clin.Lipidol_10_816 |
| PubMedSearch : Pingitore_2016_J.Clin.Lipidol_10_816 |
| PubMedID: 27578112 |
| Gene_locus related to this paper: human-LPL |