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.(W116X) p.(Trp116Ter) c.347G>A, p.(W116*)
| Title : Wolman disease successfully treated by bone marrow transplantation - Krivit_2000_Bone.Marrow.Transplant_26_567 |
| Author(s) : Krivit W , Peters C , Dusenbery K , Ben-Yoseph Y , Ramsay NK , Wagner JE , Anderson R |
| Ref : Bone Marrow Transplant , 26 :567 , 2000 |
| Abstract : Krivit_2000_Bone.Marrow.Transplant_26_567 |
| ESTHER : Krivit_2000_Bone.Marrow.Transplant_26_567 |
| PubMedSearch : Krivit_2000_Bone.Marrow.Transplant_26_567 |
| PubMedID: 11019848 |
| Gene_locus related to this paper: human-LIPA |
| Title : Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease - Anderson_1999_Mol.Genet.Metab_68_333 |
| Author(s) : Anderson RA , Bryson GM , Parks JS |
| Ref : Mol Genet Metab , 68 :333 , 1999 |
| Abstract : Anderson_1999_Mol.Genet.Metab_68_333 |
| ESTHER : Anderson_1999_Mol.Genet.Metab_68_333 |
| PubMedSearch : Anderson_1999_Mol.Genet.Metab_68_333 |
| PubMedID: 10562460 |
| Gene_locus related to this paper: human-LIPA |