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.576del Exon 5 Phenotype (LCATD)
| Title : Lecithin: cholesterol acyltransferase deficiency: identification of two defective alleles in fibroblast cDNA - Miller_1995_J.Lipid.Res_36_931 |
| Author(s) : Miller M , Zeller K , Kwiterovich PC , Albers JJ , Feulner G |
| Ref : J Lipid Res , 36 :931 , 1995 |
| Abstract : Miller_1995_J.Lipid.Res_36_931 |
| ESTHER : Miller_1995_J.Lipid.Res_36_931 |
| PubMedSearch : Miller_1995_J.Lipid.Res_36_931 |
| PubMedID: 7658165 |