Article
Genetic PrP Prion Diseases.
Cold Spring Harbor perspectives in biology - 1 May 2018
Kim Mee-Ohk, Takada Leonel T, Wong Katherine, Forner Sven A, Geschwind Michael D
Abstract excerpt
Genetic prion diseases (gPrDs) caused by mutations in the prion protein gene (PRNP) have been classified as genetic Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease, or fatal familial insomnia. Mutations in PRNP can be missense, nonsense, and/or octapeptide repeat insertions or, possibly, deletions. These mutations can produce diverse clinical features. They may also show varying ancillary...
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