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...

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Bibliografske podrobnosti
Main Authors: Xu, You-Hai, Quinn, Brian, Witte, David, Grabowski, Gregory A.
Format: Artigo
Jezik:Inglês
Izdano: American Society for Investigative Pathology 2003
Teme:
Animal Model
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1892407/
https://ncbi.nlm.nih.gov/pubmed/14578207
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