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.W91X (Trp91Ter) (Trp64Ter W64X in the mature protein without signal peptide)
| Title : Higher triglycerides, lower high-density lipoprotein cholesterol, and higher systolic blood pressure in lipoprotein lipase-deficient heterozygotes. A preliminary report - Sprecher_1996_Circulation_94_3239 |
| Author(s) : Sprecher DL , Harris BV , Stein EA , Bellet PS , Keilson LM , Simbartl LA |
| Ref : Circulation , 94 :3239 , 1996 |
| Abstract : Sprecher_1996_Circulation_94_3239 |
| ESTHER : Sprecher_1996_Circulation_94_3239 |
| PubMedSearch : Sprecher_1996_Circulation_94_3239 |
| PubMedID: 8989135 |
| Title : Trp64->nonsense mutation in the lipoprotein lipase gene - Sprecher_1992_J.Lipid.Res_33_859 |
| Author(s) : Sprecher DL , Kobayashi J , Rymaszewski M , Goldberg IJ , Harris BV , Bellet PS , Ameis D , Yunker RL , Black DM , Stein EA , Schotz MC , Wiginton DA |
| Ref : J Lipid Res , 33 :859 , 1992 |
| Abstract : Sprecher_1992_J.Lipid.Res_33_859 |
| ESTHER : Sprecher_1992_J.Lipid.Res_33_859 |
| PubMedSearch : Sprecher_1992_J.Lipid.Res_33_859 |
| PubMedID: 1512512 |