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.Arg102Ser R102S (R75S Arg75Ser in the mature protein without signal peptide) rs118204073
| Title : Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes - Wilson_1993_J.Clin.Invest_92_203 |
| Author(s) : Wilson DE , Hata A , Kwong LK , Lingam A , Shuhua J , Ridinger DN , Yeager C , Kaltenborn KC , Iverius PH , Lalouel JM |
| Ref : J Clinical Investigation , 92 :203 , 1993 |
| Abstract : Wilson_1993_J.Clin.Invest_92_203 |
| ESTHER : Wilson_1993_J.Clin.Invest_92_203 |
| PubMedSearch : Wilson_1993_J.Clin.Invest_92_203 |
| PubMedID: 8325986 |
| Gene_locus related to this paper: human-LPL |