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A novel mutation I215V in thePRNPgene associated with Creutzfeldt–Jakob and Alzheimer’s diseases in three patients with divergent clinical phenotypes

✍ Scribed by Muñoz-Nieto, Mercedes; Ramonet, Neus; López-Gastón, Juan Ignacio; Cuadrado-Corrales, Natividad; Calero, Olga; Díaz-Hurtado, Marcos; Ipiens, José Ramón; Ramón y Cajal, Santiago; Pedro-Cuesta, Jesús; Calero, Miguel

Book ID
118784437
Publisher
Springer
Year
2012
Tongue
English
Weight
338 KB
Volume
260
Category
Article
ISSN
0340-5354

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Identification of three novel mutations
Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype
✍ Katell Peoc'h; Philippe Manivet; Patrice Beaudry; Françoise Attane; Gérard Besso 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 49 KB 👁 1 views

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