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 :
L353X in the mature proteine delCT1312-1313 The mutation covers the last two bases of exon 7, interrupting codon Leu353 so that a premature translation termination codon will be formed at codon 354
| Title : Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations - Nierman_2006_J.Inherit.Metab.Dis_29_686 |
| Author(s) : Nierman MC , Peter J , Khoo KL , Defesche JC |
| Ref : J Inherit Metab Dis , 29 :686 , 2006 |
| Abstract : |
| PubMedSearch : Nierman_2006_J.Inherit.Metab.Dis_29_686 |
| PubMedID: 16972177 |
| Gene_locus related to this paper: human-LPL |