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.619G>A Exon 5 Phenotype (LCATD)
| Title : Lecithin:cholesterol acyltransferase deficiency and fish eye disease. - Assmann_1991_Curr.Opin.Lipidol_2_110 |
| Author(s) : Assmann G , von Eckardstein A , Funke H |
| Ref : Curr Opin Lipidol , 2 :110 , 1991 |
| Abstract : Assmann_1991_Curr.Opin.Lipidol_2_110 |
| ESTHER : Assmann_1991_Curr.Opin.Lipidol_2_110 |
| PubMedSearch : Assmann_1991_Curr.Opin.Lipidol_2_110 |
| PubMedID: |