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.862del Exon 6 Phenotype (LCATD)
| Title : Two novel point mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in LCAT deficiency: LCAT (G873 deletion) and LCAT (Gly344-->Ser) - Moriyama_1995_J.Lipid.Res_36_2329 |
| Author(s) : Moriyama K , Sasaki J , Arakawa F , Takami N , Maeda E , Matsunaga A , Takada Y , Midorikawa K , Yanase T , Yoshino G , Marcovina SM , Albers JJ , Arakawa K |
| Ref : J Lipid Res , 36 :2329 , 1995 |
| Abstract : Moriyama_1995_J.Lipid.Res_36_2329 |
| ESTHER : Moriyama_1995_J.Lipid.Res_36_2329 |
| PubMedSearch : Moriyama_1995_J.Lipid.Res_36_2329 |
| PubMedID: 8656071 |