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.585T>G Exon 5 Phenotype (LCATD)
| Title : Familial lecithin:cholesterol acyltransferase deficiency: molecular analysis of a compound heterozygote: LCAT (Arg147 --> Trp) and LCAT (Tyr171 --> Stop) - Guerin_1997_Atherosclerosis_131_85 |
| Author(s) : Guerin M , Dachet C , Goulinet S , Chevet D , Dolphin PJ , Chapman MJ , Rouis M |
| Ref : Atherosclerosis , 131 :85 , 1997 |
| Abstract : Guerin_1997_Atherosclerosis_131_85 |
| ESTHER : Guerin_1997_Atherosclerosis_131_85 |
| PubMedSearch : Guerin_1997_Atherosclerosis_131_85 |
| PubMedID: 9180249 |