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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: Potter, Gregory B., Santos, Marta, Davisson, Muriel T., Rowitch, David H., Marks, Dan L., Bongarzone, Ernesto R., Petryniak, Magdalena A.
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2013
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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