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A novel three extra-repeat insertion in the prion protein gene(PRNP)in a patient with Creutzfeldt-Jakob disease

✍ Scribed by E. Grasbon-Frodl; R. Schmalzbauer; P. Weber; B. Krebs; O. Windl; I. Zerr; H. A. Kretzschmar

Publisher
Springer
Year
2004
Tongue
English
Weight
158 KB
Volume
5
Category
Article
ISSN
1364-6745

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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