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 :
81C > A or C27X (C27X Cys27stop in the mature protein like most previous publications which do not count signal peptide.
| Title : A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia - Chan_2006_Clin.Chim.Acta_368_120 |
| Author(s) : Chan AO , But WM , Lau GT , Tse WY , Shek CC |
| Ref : Clinica Chimica Acta , 368 :120 , 2006 |
| Abstract : |
| PubMedSearch : Chan_2006_Clin.Chim.Acta_368_120 |
| PubMedID: 16460718 |
| Gene_locus related to this paper: human-LPL |