Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP

Stop codon mutations in the gene encoding the prion protein (PRNP) are very rare and have thus far only been described in two patients with prion protein cerebral amyloid angiopathy (PrP-CAA). In this report, we describe the clinical, histopathological and pathological prion protein (PrP(Sc)) charac...

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Hauptverfasser: Jansen, Casper, Parchi, Piero, Capellari, Sabina, Vermeij, Ad J., Corrado, Patrizia, Baas, Frank, Strammiello, Rosaria, van Gool, Willem A., van Swieten, John C., Rozemuller, Annemieke J. M.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer-Verlag 2009
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Original Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2808512/
https://ncbi.nlm.nih.gov/pubmed/19911184
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00401-009-0609-x
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