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 : c.438delC p. Ser112Ter Homozygous
| Title : Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations - Elsayed_2016_Egyptian.J.Med.Hum.Genet_17_277 |
| Author(s) : Elsayed S , Elsobky E , Tantawy A , Ragab E , Gil M , Lambert N , de Saint Basile G |
| Ref : Egyptian J Med Hum Genet , 17 :277 , 2016 |
| Abstract : Elsayed_2016_Egyptian.J.Med.Hum.Genet_17_277 |
| ESTHER : Elsayed_2016_Egyptian.J.Med.Hum.Genet_17_277 |
| PubMedSearch : Elsayed_2016_Egyptian.J.Med.Hum.Genet_17_277 |
| PubMedID: |
| Gene_locus related to this paper: human-LIPA |