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.703G>A Exon 5 Phenotype (LCATD)
| Title : Stability of lipids on peritoneal dialysis in a patient with familial LCAT deficiency - |
| Author(s) : Weber CL , Frohlich J , Wang J , Hegele RA , Chan-Yan C |
| Ref : Nephrol Dial Transplant , 22 :2084 , 2007 |
| PubMedID: 17452402 |