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.821C>G Exon 6 Phenotype (LCATD)
Title : Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996 - Maruyama_2004_J.Atheroscler.Thromb_11_131 |
Author(s) : Maruyama T , Yamashita S , Matsuzawa Y , Bujo H , Takahashi K , Saito Y , Ishibashi S , Ohashi K , Shionoiri F , Gotoda T , Yamada N , Kita T |
Ref : J Atheroscler Thromb , 11 :131 , 2004 |
Abstract : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
ESTHER : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
PubMedSearch : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
PubMedID: 15256764 |