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.V370M Val370Met c.G1478A (Val343Met V343M in the mature protein) rs298
| Title : DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene - Nickerson_1998_Nat.Genet_19_233 |
| Author(s) : Nickerson DA , Taylor SL , Weiss KM , Clark AG , Hutchinson RG , Stengard J , Salomaa V , Vartiainen E , Boerwinkle E , Sing CF |
| Ref : Nat Genet , 19 :233 , 1998 |
| Abstract : Nickerson_1998_Nat.Genet_19_233 |
| ESTHER : Nickerson_1998_Nat.Genet_19_233 |
| PubMedSearch : Nickerson_1998_Nat.Genet_19_233 |
| PubMedID: 9662394 |
| Gene_locus related to this paper: human-LPL |