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.367C>T Exon 3 Phenotype (Fish Eye Disease)
| Title : Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea - Blanco-Vaca_1997_Arterioscler.Thromb.Vasc.Biol_17_1382 |
| Author(s) : Blanco-Vaca F , Qu SJ , Fiol C , Fan HZ , Pao Q , Marzal-Casacuberta A , Albers JJ , Hurtado I , Gracia V , Pinto X , Marti T , Pownall HJ |
| Ref : Arterioscler Thromb Vasc Biol , 17 :1382 , 1997 |
| Abstract : Blanco-Vaca_1997_Arterioscler.Thromb.Vasc.Biol_17_1382 |
| ESTHER : Blanco-Vaca_1997_Arterioscler.Thromb.Vasc.Biol_17_1382 |
| PubMedSearch : Blanco-Vaca_1997_Arterioscler.Thromb.Vasc.Biol_17_1382 |
| PubMedID: 9261271 |