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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Xu, You-Hai, Quinn, Brian, Witte, David, Grabowski, Gregory A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Investigative Pathology 2003
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1892407/
https://ncbi.nlm.nih.gov/pubmed/14578207
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