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.Trp14Stop W14X TGG->TAG (mutation in signal peptide) mild chylomicronemia. No LPL
| Title : Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis - Li_2018_Lipids.Health.Dis_17_144 |
| Author(s) : Li X , Yang Q , Shi X , Chen W , Pu N , Li W , Li J |
| Ref : Lipids Health Dis , 17 :144 , 2018 |
| Abstract : Li_2018_Lipids.Health.Dis_17_144 |
| ESTHER : Li_2018_Lipids.Health.Dis_17_144 |
| PubMedSearch : Li_2018_Lipids.Health.Dis_17_144 |
| PubMedID: 29921298 |
| Gene_locus related to this paper: human-LPL |
| Title : A novel nonsense mutation in exon 1 and a transition in intron 3 of the lipoprotein lipase gene - Nakamura_1996_J.Atheroscler.Thromb_3_17 |
| Author(s) : Nakamura T , Suehiro T , Yasuoka N , Yamamoto M , Ito H , Yamano T , Hashimoto K |
| Ref : J Atheroscler Thromb , 3 :17 , 1996 |
| Abstract : Nakamura_1996_J.Atheroscler.Thromb_3_17 |
| ESTHER : Nakamura_1996_J.Atheroscler.Thromb_3_17 |
| PubMedSearch : Nakamura_1996_J.Atheroscler.Thromb_3_17 |
| PubMedID: 9225235 |