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 : p. Val203Leu V203L c.607G>C
| Title : Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report - Kuranobu_2016_Hepatol.Res_46_477 |
| Author(s) : Kuranobu N , Murakami J , Okamoto K , Nishimura R , Murayama K , Takamura A , Umeda T , Eto Y , Kanzaki S |
| Ref : Hepatol Res , 46 :477 , 2016 |
| Abstract : Kuranobu_2016_Hepatol.Res_46_477 |
| ESTHER : Kuranobu_2016_Hepatol.Res_46_477 |
| PubMedSearch : Kuranobu_2016_Hepatol.Res_46_477 |
| PubMedID: 26385844 |
| Gene_locus related to this paper: human-LIPA |
| Title : A case of cholesterol ester storage disease with hyperlipidemia and liver dysfunction - |
| Author(s) : Yorifuji T , Ide M , Nagai S |
| Ref : Clinical Endocrinology (Oxf) , 58 (Suppl) :187 , 2010 |
| PubMedID: |
| Gene_locus related to this paper: human-LIPA |