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 :
missense variant (NM_001127605.3:c.928T>A, p.Trp310Arg)
| Title : A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant - Anushiravani_2023_Arch.Iran.Med_26_86 |
| Author(s) : Anushiravani A , Jafari Khamirani H , Mohamadkhani A , Mani A , Dianatpour M , Malekzadeh R |
| Ref : Arch Iran Med , 26 :86 , 2023 |
| Abstract : |
| PubMedSearch : Anushiravani_2023_Arch.Iran.Med_26_86 |
| PubMedID: 37543928 |
| Gene_locus related to this paper: human-LIPA |