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 : exon 4: NM_001127605: c. G353A (p.G118D) p.Gly98Asp in the mature protein
| Title : Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature - Asna Ashari_2023_J.Med.Case.Rep_17_369 |
| Author(s) : Asna Ashari K , Azari-Yam A , Shahrooei M , Ziaee V |
| Ref : J Med Case Rep , 17 :369 , 2023 |
| Abstract : Asna Ashari_2023_J.Med.Case.Rep_17_369 |
| ESTHER : Asna Ashari_2023_J.Med.Case.Rep_17_369 |
| PubMedSearch : Asna Ashari_2023_J.Med.Case.Rep_17_369 |
| PubMedID: 37641143 |
| Gene_locus related to this paper: human-LIPA |