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.Glu62ArgfsTer27 E62fsRfsX27 c.Ins A183 (E35fs Glu35fs 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 : |
| PubMedSearch : Foubert_1997_J.Med.Genet_34_672 |
| PubMedID: 9279761 |
| Title : Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency - Benlian_1996_Am.J.Hum.Genet_59_431 |
| Author(s) : Benlian P , Foubert L , Gagne E , Bernard L , De Gennes JL , Langlois S , Robinson W , Hayden M |
| Ref : American Journal of Human Genetics , 59 :431 , 1996 |
| Abstract : |
| PubMedSearch : Benlian_1996_Am.J.Hum.Genet_59_431 |
| PubMedID: 8755931 |
| Gene_locus related to this paper: human-LPL |