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.1216T>G Exon 6 Phenotype (LCATD)
| Title : A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100 - Nanjee_2003_Atherosclerosis_170_105 |
| Author(s) : Nanjee MN , Stocks J , Cooke CJ , Molhuizen HO , Marcovina S , Crook D , Kastelein JP , Miller NE |
| Ref : Atherosclerosis , 170 :105 , 2003 |
| Abstract : Nanjee_2003_Atherosclerosis_170_105 |
| ESTHER : Nanjee_2003_Atherosclerosis_170_105 |
| PubMedSearch : Nanjee_2003_Atherosclerosis_170_105 |
| PubMedID: 12957688 |