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.614G>A Exon 5 Phenotype (LCATD)
| Title : A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene - |
| Author(s) : Frasca GM , Soverini L , Tampieri E , Franceschini G , Calabresi L , Pisciotta L , Preda P , Vangelista A , Stefoni S , Bertolini S |
| Ref : Nephrol Dial Transplant , 19 :1622 , 2004 |
| PubMedID: 15150357 |