Gene Locus : human-LIPC
Mode of mutation : Natural mutant
Disease : Hepatic triglyceride lipase Deficiency
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.A196T Ala196Thr c. G>A (p.A174T Ala174Thr in the mature protein without the 22 amino-acids of signal peptide) rs770215498
| Title : Effect of fenofibrate on plasma lipoprotein composition and kinetics in patients with complete hepatic lipase deficiency - Ruel_2005_Arterioscler.Thromb.Vasc.Biol_25_2600 |
| Author(s) : Ruel IL , Lamarche B , Mauger JF , Badellino KO , Cohn JS , Marcil M , Couture P |
| Ref : Arterioscler Thromb Vasc Biol , 25 :2600 , 2005 |
| Abstract : Ruel_2005_Arterioscler.Thromb.Vasc.Biol_25_2600 |
| ESTHER : Ruel_2005_Arterioscler.Thromb.Vasc.Biol_25_2600 |
| PubMedSearch : Ruel_2005_Arterioscler.Thromb.Vasc.Biol_25_2600 |
| PubMedID: 16224048 |
| Gene_locus related to this paper: human-LIPC |
| Title : Characterization of a novel mutation causing hepatic lipase deficiency among French Canadians - Ruel_2003_J.Lipid.Res_44_1508 |
| Author(s) : Ruel IL , Couture P , Gagne C , Deshaies Y , Simard J , Hegele RA , Lamarche B |
| Ref : J Lipid Res , 44 :1508 , 2003 |
| Abstract : Ruel_2003_J.Lipid.Res_44_1508 |
| ESTHER : Ruel_2003_J.Lipid.Res_44_1508 |
| PubMedSearch : Ruel_2003_J.Lipid.Res_44_1508 |
| PubMedID: 12777476 |
| Gene_locus related to this paper: human-LIPC |