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.756C>A, N252K with numbering including signal peptide
| Title : Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency - Gotoda_1991_Lancet_338_778 |
| Author(s) : Gotoda T , Yamada N , Murase T , Sakuma M , Murayama N , Shimano H , Kozaki K , Albers JJ , Yazaki Y , Akanuma Y |
| Ref : Lancet , 338 :778 , 1991 |
| Abstract : Gotoda_1991_Lancet_338_778 |
| ESTHER : Gotoda_1991_Lancet_338_778 |
| PubMedSearch : Gotoda_1991_Lancet_338_778 |
| PubMedID: 1681161 |
| Gene_locus related to this paper: human-LCAT |