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.86A>T Exon 1 Phenotype (LCATD)
| Title : A novel missense mutation (Asn5-->Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency - Okubo_1996_Int.J.Clin.Lab.Res_26_250 |
| Author(s) : Okubo M , Aoyama Y , Shio H , Albers JJ , Murase T |
| Ref : Int J Clin Lab Res , 26 :250 , 1996 |
| Abstract : Okubo_1996_Int.J.Clin.Lab.Res_26_250 |
| ESTHER : Okubo_1996_Int.J.Clin.Lab.Res_26_250 |
| PubMedSearch : Okubo_1996_Int.J.Clin.Lab.Res_26_250 |
| PubMedID: 9007616 |