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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer-Verlag 2009
Pynciau:
Original Article
Mynediad Ar-lein: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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