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.991C>T Exon 6 Phenotype (LCATD)
| Title : Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband - Argyropoulos_1998_J.Lipid.Res_39_1870 |
| Author(s) : Argyropoulos G , Jenkins A , Klein RL , Lyons T , Wagenhorst B , St Armand J , Marcovina SM , Albers JJ , Pritchard PH , Garvey WT |
| Ref : J Lipid Res , 39 :1870 , 1998 |
| Abstract : Argyropoulos_1998_J.Lipid.Res_39_1870 |
| ESTHER : Argyropoulos_1998_J.Lipid.Res_39_1870 |
| PubMedSearch : Argyropoulos_1998_J.Lipid.Res_39_1870 |
| PubMedID: 9741700 |