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.153 C>A (p.Tyr51Ter) 3-month-old infant whith hemophagocytic lymphohistiocytosis homozygous mutation
| Title : A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis - Tinsa_2019_J.Pediatr.Hematol.Oncol_41_e193 |
| Author(s) : Tinsa F , Ben Romdhane M , Boudabous H , Bel Hadj I , Brini I , Tebib N , Louati H , Bekri S , Boussetta K |
| Ref : J Pediatr Hematol Oncol , 41 :e193 , 2019 |
| Abstract : Tinsa_2019_J.Pediatr.Hematol.Oncol_41_e193 |
| ESTHER : Tinsa_2019_J.Pediatr.Hematol.Oncol_41_e193 |
| PubMedSearch : Tinsa_2019_J.Pediatr.Hematol.Oncol_41_e193 |
| PubMedID: 29702543 |
| Gene_locus related to this paper: human-LIPA |