Article
An amber mutation of prion protein in Gerstmann-Sträussler syndrome with mutant PrP plaques.
Biochemical and biophysical research communications - 30 Apr 1993
Kitamoto T, Iizuka R, Tateishi J
Abstract excerpt
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 beta/A4 protein, but of PrP. Both wild and mutant PrP...
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