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.D352del D352del c.1055_1057del found in a compound heterozygote with with H129R
| Title : First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease - Elaraby_2023_J.Mol.Neurosci__ |
| Author(s) : Elaraby NM , Galal ER , Abdel-Hamid M , Elbendary HM , Elbadry M , Mekkawy MK , Ashaat NA , Mounir SM , Ashaat EA |
| Ref : Journal of Molecular Neuroscience , : , 2023 |
| Abstract : |
| PubMedSearch : Elaraby_2023_J.Mol.Neurosci__ |
| PubMedID: 37470904 |
| Gene_locus related to this paper: human-LIPA |
| Title : Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman Disease - Ruiz-Andres_2017_JIMD.Rep_37_7 |
| Author(s) : Ruiz-Andres C , Selles E , Arias A , Gort L |
| Ref : JIMD Rep , 37 :7 , 2017 |
| Abstract : |
| PubMedSearch : Ruiz-Andres_2017_JIMD.Rep_37_7 |
| PubMedID: 28220406 |
| Gene_locus related to this paper: human-LIPA |