Modulation of Creutzfeldt-Jakob disease prion propagation by the A224V mutation

OBJECTIVE: Mutations in the gene encoding the prion protein (PrP) are responsible for approximately 10–15% of cases of prion disease in humans, including Creutzfeldt-Jakob disease (CJD). Here we report the discovery of a previously unreported C-terminal PrP mutation (A224V) in a CJD patient exhibiti...

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Veröffentlicht in:Ann Neurol
Hauptverfasser: Watts, Joel C., Giles, Kurt, Serban, Ana, Patel, Smita, Oehler, Abby, Bhardwaj, Sumita, Guan, Shenheng, Greicius, Michael, Miller, Bruce L., DeArmond, Stephen J., Geschwind, Michael D., Prusiner, Stanley B.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2015
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4711268/
https://ncbi.nlm.nih.gov/pubmed/26094969
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24463
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