W116X_human-LIPA

General

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*)

References (2)

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 :
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 :
PubMedSearch : Anderson_1999_Mol.Genet.Metab_68_333
PubMedID: 10562460
Gene_locus related to this paper: human-LIPA