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.Cys291Tyr C291Y of exon 6 (Cys264Tyr C264Y in the mature protein which do not count signal peptide.).Acute hypertriglyceridaemic pancreatitis in A21-year-old primigravida of North Indian origin homozygous mutation
| Title : Acute hypertriglyceridaemic pancreatitis in a pregnant Indian: a new lipoprotein lipase gene mutation - |
| Author(s) : Murugasu CG , Armstrong G , Creedon G , Cavanna JS , Galton DJ , Tomkin GH |
| Ref : J R Soc Med , 91 :205 , 1998 |
| PubMedID: 9659309 |
| Gene_locus related to this paper: human-LPL |