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.295T>C Exon 2 Phenotype (LCATD)
| Title : Molecular characterization of two patients with severe LCAT deficiency - |
| Author(s) : Charlton-Menys V , Pisciotta L , Durrington PN , Neary R , Short CD , Calabresi L , Calandra S , Bertolini S |
| Ref : Nephrol Dial Transplant , 22 :2379 , 2007 |
| PubMedID: 17526537 |