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Pathological Evidence that the T188R Mutation in PRNP Is Associated with Prion Disease
Human prion diseases can be caused by mutations in the prion protein gene PRNP. Prion disease with mutations at codon 188 has been reported in 6 cases, but only 1 had the T188R mutation and it was not pathologically confirmed. We report the clinical, neuropsychological, imaging, genetic, and neuropa...
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| Asıl Yazarlar: | , , , , , , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2010
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3136530/ https://ncbi.nlm.nih.gov/pubmed/21107135 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/NEN.0b013e3181ffc39c |
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