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.Thr128Ala T128A ACC->GCC (T101A Thr101Ala frameshift stop62 in the mature protein which do not count signal peptide)
| Title : Assessment of French patients with LPL deficiency for French Canadian mutations - Foubert_1997_J.Med.Genet_34_672 |
| Author(s) : Foubert L , De Gennes JL , Lagarde JP , Ehrenborg E , Raisonnier A , Girardet JP , Hayden MR , Benlian P |
| Ref : Journal of Medical Genetics , 34 :672 , 1997 |
| Abstract : Foubert_1997_J.Med.Genet_34_672 |
| ESTHER : Foubert_1997_J.Med.Genet_34_672 |
| PubMedSearch : Foubert_1997_J.Med.Genet_34_672 |
| PubMedID: 9279761 |
| Title : Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene - Benlian_1996_N.Engl.J.Med_335_848 |
| Author(s) : Benlian P , De Gennes JL , Foubert L , Zhang H , Gagne SE , Hayden M |
| Ref : N Engl J Med , 335 :848 , 1996 |
| Abstract : Benlian_1996_N.Engl.J.Med_335_848 |
| ESTHER : Benlian_1996_N.Engl.J.Med_335_848 |
| PubMedSearch : Benlian_1996_N.Engl.J.Med_335_848 |
| PubMedID: 8778602 |
| Gene_locus related to this paper: human-LPL |