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- W2007442996 abstract "We found an amber mutation in the open reading frame of the prion protein (PrP) gene. The codon 145 mutation (tyrosine to stop) was recognized on a PrP allele of a patient with Alzheimer-type clinical course. Pathologic examination revealed many amyloid plaques and neurofibrillary changes. However, the amyloid plaques in this patient were not composed of β/A4 protein, but of PrP. Both wild and mutant PrP alleles were detected in the cerebral mRNA; however, only C-terminal truncated PrP was detected in the kuru plaques. We herein present evidence that only mutant PrP aggregates to make kuru plaques in the central nervous system." @default.
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- W2007442996 date "1993-04-01" @default.
- W2007442996 modified "2023-09-27" @default.
- W2007442996 title "An Amber Mutation of Prion Protein in Gerstmann-Sträussler Syndrome with Mutant PrP Plaques" @default.
- W2007442996 doi "https://doi.org/10.1006/bbrc.1993.1447" @default.
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