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Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt–Jakob disease

✍ Scribed by Croes, Esther A; Alizadeh, Behrooz Z; Bertoli-Avella, Aida M; Rademaker, Tessa; Vergeer-Drop, Jeannette; Dermaut, Bart; Houwing-Duistermaat, Jeanine J; Wientjens, Dorothee PWM; Hofman, Albert; Van Broeckhoven, Christine


Book ID
110025569
Publisher
Nature Publishing Group
Year
2004
Tongue
English
Weight
108 KB
Volume
12
Category
Article
ISSN
1018-4813

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Polymorphisms of the prion protein gene
✍ Mirella Salvatore; Maurizio Genuardi; Rosella Petraroli; Carlo Masullo; Marco D' 📂 Article 📅 1994 🏛 Springer 🌐 English ⚖ 593 KB

Creutzfeldt-Jakob disease (CJD) is a transmissible neurodegenerative disorder characterized by the accumulation of the amyloid protein PrP in the CNS. Two coding polymorphisms of the PrP gene (PRNP) are a methionine (Met) to valine (Val) change at codon 129, and a deletion in the octapeptide coding