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Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease
Krabbe disease is a devastating pediatric leukodystrophy caused by mutations in the galactocerebrosidase (GALC) gene. A significant subset of the infantile form of the disease is due to missense mutations that result in aberrant protein production. The currently used mouse model, twitcher, has a non...
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| Hlavní autoři: | , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Oxford University Press
2013
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3736866/ https://ncbi.nlm.nih.gov/pubmed/23620143 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt190 |
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