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 : p.G179R c.G>C G203R exon 5
| Title : Molecular analysis of a novel LCAT mutation (Gly179 --> Arg) found in a patient with complete LCAT deficiency - Wang_2011_J.Atheroscler.Thromb_18_713 |
| Author(s) : Wang XL , Osuga J , Tazoe F , Okada K , Nagashima S , Takahashi M , Ohshiro T , Bayasgalan T , Yagyu H , Ishibashi S |
| Ref : J Atheroscler Thromb , 18 :713 , 2011 |
| Abstract : Wang_2011_J.Atheroscler.Thromb_18_713 |
| ESTHER : Wang_2011_J.Atheroscler.Thromb_18_713 |
| PubMedSearch : Wang_2011_J.Atheroscler.Thromb_18_713 |
| PubMedID: 21597230 |
| Gene_locus related to this paper: human-LCAT |