Gene Locus : human-LIPC
Mode of mutation : Natural mutant
Disease : Hypobetalipoproteinemia Familial 2
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 : August-03-2022
Comment :
| Title : Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia - Dijk_2022_Circulation__ |
| Author(s) : Dijk W , Di Filippo M , Kooijman S , van Eenige R , Rimbert A , Caillaud A , Thedrez A , Arnaud L , Pronk A , Garcon D , Sotin T , Lindenbaum P , Garcia EO , Pais de Barros JP , Duvillard L , Si-Tayeb K , Amigo N , Le Questel JY , Rensen PCN , Le May C , Moulin P , Cariou B |
| Ref : Circulation , : , 2022 |
| Abstract : Dijk_2022_Circulation__ |
| ESTHER : Dijk_2022_Circulation__ |
| PubMedSearch : Dijk_2022_Circulation__ |
| PubMedID: 35899625 |
| Gene_locus related to this paper: human-LIPC |