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 :
Ala98Thr\/HGVSA125 T\; 373G > A, located in exon 3 of the LPL gene. variant of unconfirmed pathogenicity (pathogenicity is highly probable)
| Title : Lipoprotein lipase: genetics, lipid uptake, and regulation - Merkel_2002_J.Lipid.Res_43_1997 |
| Author(s) : Merkel M , Eckel RH , Goldberg IJ |
| Ref : J Lipid Res , 43 :1997 , 2002 |
| Abstract : |
| PubMedSearch : Merkel_2002_J.Lipid.Res_43_1997 |
| PubMedID: 12454259 |
| Gene_locus related to this paper: human-LPL |