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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...
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| Hlavní autoři: | , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
American Society for Investigative Pathology
2003
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1892407/ https://ncbi.nlm.nih.gov/pubmed/14578207 |
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