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.892A>G Exon 6 Phenotype (Fish Eye Disease)
| Title : Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations - Sessa_2001_Nephron_88_268 |
| Author(s) : Sessa A , Battini G , Meroni M , Daidone G , Carnera I , Brambilla PL , Vigano G , Giordano F , Pallotti F , Torri Tarelli L , Calabresi L , Rolleri M , Bertolini S |
| Ref : Nephron , 88 :268 , 2001 |
| Abstract : Sessa_2001_Nephron_88_268 |
| ESTHER : Sessa_2001_Nephron_88_268 |
| PubMedSearch : Sessa_2001_Nephron_88_268 |
| PubMedID: 11423760 |