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.Asp201Val D201V (Asp174Val D174V in the mature protein which do not count signal peptide)
| Title : Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method - |
| Author(s) : Abifadel M , Jambart S , Allard D , Rabes JP , Varret M , Derre A , Chouery E , Salem N , Junien C , Aydenian H , Boileau C |
| Ref : Clin Genet , 65 :158 , 2004 |
| PubMedID: 14984478 |