Viable Mouse Models of Acid β-Glucosidase Deficiency : The Defect in Gaucher Disease

Gaucher disease is an autosomal recessively inherited disease caused by mutations at the acid β-glucosidase (GCase) locus (GBA). To develop viable models of Gaucher disease, point mutations (pmuts), encoding N370S, V394L, D409H, or D409V were introduced into the mouse GCase (gba) locus. DNA sequenci...

Full description

Saved in:
Bibliographic Details
Main Authors: Xu, You-Hai, Quinn, Brian, Witte, David, Grabowski, Gregory A.
Format: Artigo
Language:Inglês
Published: American Society for Investigative Pathology 2003
Subjects:
Animal Model
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1892407/
https://ncbi.nlm.nih.gov/pubmed/14578207
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items