Gene Locus : human-LIPA
Mode of mutation : Natural mutant
Disease : Wolman disease WD, Cholesterol Ester Storage Disease, CESD
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.860G>A p.G287E. A compound heterozygote with c.860G>A (p.G287E) (Xiao 2022) in a 7-year-old child with abnormal liver function for 4 years. Hepatosplenomegaly and hepatic steatosis hepatic fibrosis
| Title : [A case of delayed-type cholesteryl ester storage disease derived from LIPA gene mutation] - Xiao_2022_Zhonghua.Er.Ke.Za.Zhi_60_360 |
| Author(s) : Xiao ZJ , Liu SX , Zou B , Cheng HH , Xu H , Huang ZH , Shu SN |
| Ref : Zhonghua Er Ke Za Zhi , 60 :360 , 2022 |
| Abstract : |
| PubMedSearch : Xiao_2022_Zhonghua.Er.Ke.Za.Zhi_60_360 |
| PubMedID: 35385947 |
| Gene_locus related to this paper: human-LIPA |