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Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations inPRNP

✍ Scribed by Casper Jansen; Piero Parchi; Sabina Capellari; Ad J. Vermeij; Patrizia Corrado; Frank Baas; Rosaria Strammiello; Willem A. van Gool; John C. van Swieten; Annemieke J. M. Rozemuller


Book ID
106073876
Publisher
Springer-Verlag
Year
2009
Tongue
English
Weight
466 KB
Volume
119
Category
Article
ISSN
0001-6322

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Identification of three novel mutations
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Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP). As the other sporadic or infectious prion disease forms, they are almost all characterized by the accumulation in the brain of an abnormal misfolded form of the patient's PrP. Brain extracts ca