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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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Détails bibliographiques
Auteurs principaux: Tartaglia, Maria Carmela, Thai, Julie N., See, Tricia, Kuo, Amy, Harbaugh, Robert, Raudabaugh, Benjamin, Cali, Ignazio, Sattavat, Mamta, Sanchez, Henry, DeArmond, Stephen J., Geschwind, Michael D.
Format: Artigo
Langue:Inglês
Publié: 2010
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Accès en ligne: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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