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.1289C>T, Exon 6, phenotype unclassified
| Title : Genetic lecithin:cholesterol acyltransferase deficiency and cardiovascular disease - Calabresi_2012_Atherosclerosis_222_299 |
| Author(s) : Calabresi L , Simonelli S , Gomaraschi M , Franceschini G |
| Ref : Atherosclerosis , 222 :299 , 2012 |
| Abstract : Calabresi_2012_Atherosclerosis_222_299 |
| ESTHER : Calabresi_2012_Atherosclerosis_222_299 |
| PubMedSearch : Calabresi_2012_Atherosclerosis_222_299 |
| PubMedID: 22189200 |
| Title : Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia - Conca_2012_J.Clin.Lipidol_6_244 |
| Author(s) : Conca P , Pileggi S , Simonelli S , Boer E , Boscutti G , Magnolo L , Tarugi P , Penco S , Franceschini G , Calabresi L , Gomaraschi M |
| Ref : J Clin Lipidol , 6 :244 , 2012 |
| Abstract : Conca_2012_J.Clin.Lipidol_6_244 |
| ESTHER : Conca_2012_J.Clin.Lipidol_6_244 |
| PubMedSearch : Conca_2012_J.Clin.Lipidol_6_244 |
| PubMedID: 22658148 |
| Gene_locus related to this paper: human-LCAT |