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 :
Homozygous deletion of exon 9: possible intron-Alu recombination
| 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 : Homozygous deletion of exon 9 causes lipoprotein lipase deficiency: possible intron-Alu recombination - Benlian_1995_J.Lipid.Res_36_356 |
| Author(s) : Benlian P , Etienne J , De Gennes JL , Noe L , Brault D , Raisonnier A , Arnault F , Hamelin J , Foubert L , Chuat JC , et al. |
| Ref : J Lipid Res , 36 :356 , 1995 |
| Abstract : |
| PubMedSearch : Benlian_1995_J.Lipid.Res_36_356 |
| PubMedID: 7751824 |