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.W409X Trp409ter mutation in exon8 (W382X Trp382Ter in the mature protein) rs118204066
| Title : Severe hypertriglyceridemia in Japan: Differences in causes and therapeutic responses - Murase_2017_J.Clin.Lipidol_11_1383 |
| Author(s) : Murase T , Okubo M , Ebara T , Mori Y |
| Ref : J Clin Lipidol , 11 :1383 , 2017 |
| Abstract : Murase_2017_J.Clin.Lipidol_11_1383 |
| ESTHER : Murase_2017_J.Clin.Lipidol_11_1383 |
| PubMedSearch : Murase_2017_J.Clin.Lipidol_11_1383 |
| PubMedID: 28958672 |
| Gene_locus related to this paper: human-LPL |
| Title : Identification of homozygous lipoprotein lipase gene mutation in a woman with recurrent aggravation of hypertriglyceridaemia induced by pregnancy - Suga_1998_J.Intern.Med_243_317 |
| Author(s) : Suga S , Tamasawa N , Kinpara I , Murakami H , Kasai N , Onuma T , Ikeda Y , Takagi A , Suda T |
| Ref : J Intern Med , 243 :317 , 1998 |
| Abstract : Suga_1998_J.Intern.Med_243_317 |
| ESTHER : Suga_1998_J.Intern.Med_243_317 |
| PubMedSearch : Suga_1998_J.Intern.Med_243_317 |
| PubMedID: 9627147 |
| Title : High frequency of mutations in the human lipoprotein lipase gene in pregnancy-induced chylomicronemia: possible association with apolipoprotein E2 isoform - Ma_1994_J.Lipid.Res_35_1066 |
| Author(s) : Ma Y , Ooi TC , Liu MS , Zhang H , McPherson R , Edwards AL , Forsythe IJ , Frohlich J , Brunzell JD , Hayden MR |
| Ref : J Lipid Res , 35 :1066 , 1994 |
| Abstract : Ma_1994_J.Lipid.Res_35_1066 |
| ESTHER : Ma_1994_J.Lipid.Res_35_1066 |
| PubMedSearch : Ma_1994_J.Lipid.Res_35_1066 |
| PubMedID: 8077845 |
| Title : Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency - Gotoda_1991_J.Clin.Invest_88_1856 |
| Author(s) : Gotoda T , Yamada N , Kawamura M , Kozaki K , Mori N , Ishibashi S , Shimano H , Takaku F , Yazaki Y , Furuichi Y , et al. |
| Ref : J Clinical Investigation , 88 :1856 , 1991 |
| Abstract : Gotoda_1991_J.Clin.Invest_88_1856 |
| ESTHER : Gotoda_1991_J.Clin.Invest_88_1856 |
| PubMedSearch : Gotoda_1991_J.Clin.Invest_88_1856 |
| PubMedID: 1752947 |
| Gene_locus related to this paper: human-LPL |