Gene Locus : No gene locus
Mode of mutation : Natural mutant
Disease :
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.I378T c.1133T>C (p. Ile378Thr) || p.N271H c.811A>C p.Asn271His
| Title : Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier - Zhang_2024_Dig.Dis.Sci__ |
| Author(s) : Zhang JH , Lin AP , Zhang L , Ruan DD , Gao MZ , Chen Q , Yu HP , Liao LS , Lin XF , Fang ZT , Lin F , Lu SY , Luo JW , Zheng XL , Chen MS |
| Ref : Digestive Diseases & Sciences , : , 2024 |
| Abstract : |
| PubMedSearch : Zhang_2024_Dig.Dis.Sci__ |
| PubMedID: 38564148 |
| Gene_locus related to this paper: human-LIPA |
| Title : Senescent case of cholesterol ester storage disease that progressed to liver cirrhosis with a novel mutation (N250H) of lysosomal acid lipase gene - Kojima_2013_Hepatol.Res_43_1361 |
| Author(s) : Kojima S , Watanabe N , Takashimizu S , Kagawa T , Shiraishi K , Koizumi J , Hirabayashi K , Ohkubo T , Kamiguchi H , Tsuda M , Mine T |
| Ref : Hepatol Res , 43 :1361 , 2013 |
| Abstract : |
| PubMedSearch : Kojima_2013_Hepatol.Res_43_1361 |
| PubMedID: 23675960 |
| Gene_locus related to this paper: human-LIPA |