Gene Locus : human-LCAT
Mode of mutation : Natural mutant
Disease : Lecithin-cholesterol acyltransferase deficiency (LCATD) and fish-eye disease (FED)
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 :
c.209T>A Exon 2 Phenotype (Fish Eye Disease)
| Title : The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families - Calabresi_2005_Arterioscler.Thromb.Vasc.Biol_25_1972 |
| Author(s) : Calabresi L , Pisciotta L , Costantin A , Frigerio I , Eberini I , Alessandrini P , Arca M , Bon GB , Boscutti G , Busnach G , Frasca G , Gesualdo L , Gigante M , Lupattelli G , Montali A , Pizzolitto S , Rabbone I , Rolleri M , Ruotolo G , Sampietro T , Sessa A , Vaudo G , Cantafora A , Veglia F , Calandra S , Bertolini S , Franceschini G |
| Ref : Arterioscler Thromb Vasc Biol , 25 :1972 , 2005 |
| Abstract : |
| PubMedSearch : Calabresi_2005_Arterioscler.Thromb.Vasc.Biol_25_1972 |
| PubMedID: 15994445 |