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 : P10fsX17 Pro10fsX17
| Title : Two different allelic mutations in a Finnish family with lecithin:cholesterol acyltransferase deficiency - Miettinen_1995_Arterioscler.Thromb.Vasc.Biol_15_460 |
| Author(s) : Miettinen H , Gylling H , Ulmanen I , Miettinen TA , Kontula K |
| Ref : Arterioscler Thromb Vasc Biol , 15 :460 , 1995 |
| Abstract : Miettinen_1995_Arterioscler.Thromb.Vasc.Biol_15_460 |
| ESTHER : Miettinen_1995_Arterioscler.Thromb.Vasc.Biol_15_460 |
| PubMedSearch : Miettinen_1995_Arterioscler.Thromb.Vasc.Biol_15_460 |
| PubMedID: 7749857 |
| Gene_locus related to this paper: human-LCAT |
| Title : Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease - Bujo_1991_Biochem.Biophys.Res.Commun_181_933 |
| Author(s) : Bujo H , Kusunoki J , Ogasawara M , Yamamoto T , Ohta Y , Shimada T , Saito Y , Yoshida S |
| Ref : Biochemical & Biophysical Research Communications , 181 :933 , 1991 |
| Abstract : Bujo_1991_Biochem.Biophys.Res.Commun_181_933 |
| ESTHER : Bujo_1991_Biochem.Biophys.Res.Commun_181_933 |
| PubMedSearch : Bujo_1991_Biochem.Biophys.Res.Commun_181_933 |
| PubMedID: 1662503 |