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.605T>C Exon 5 Phenotype (Unclassified)
| Title : Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia - Recalde_2002_Atherosclerosis_163_49 |
| Author(s) : Recalde D , Cenarro A , Garcia-Otin AL , Gomez-Coronado D , Civeira F , Pocovi M |
| Ref : Atherosclerosis , 163 :49 , 2002 |
| Abstract : Recalde_2002_Atherosclerosis_163_49 |
| ESTHER : Recalde_2002_Atherosclerosis_163_49 |
| PubMedSearch : Recalde_2002_Atherosclerosis_163_49 |
| PubMedID: 12048121 |