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.Cys291Ter C291X TGC->TGA of exon 6 (Cys264Ter C264X in the mature protein which do not count signal peptide)
| Title : Mutations in the lipoprotein lipase gene as a cause of hypertriglyceridemia and pancreatitis in Taiwan - Jap_2003_Pancreas_27_122 |
| Author(s) : Jap TS , Jenq SF , Wu YC , Chiu CY , Cheng HM |
| Ref : Pancreas , 27 :122 , 2003 |
| Abstract : Jap_2003_Pancreas_27_122 |
| ESTHER : Jap_2003_Pancreas_27_122 |
| PubMedSearch : Jap_2003_Pancreas_27_122 |
| PubMedID: 12883259 |