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- W2463575404 endingPage "4149" @default.
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- W2463575404 abstract "Prion diseases in humans are neurodegenerative diseases which are caused by an accumulation of abnormal, misfolded cellular prion protein known as scrapie prion protein (PrPSc). Genetic, acquired, or spontaneous (sporadic) forms are known. Pathogenic mutations in the human prion protein gene (PRNP) have been identified in 10-15 % of CJD patients. These mutations may be single point mutations, STOP codon mutations, or insertions or deletions of octa-peptide repeats. Some non-coding mutations and new mutations in the PrP gene have been identified without clear evidence for their pathogenic significance. In the present review, we provide an updated overview of PRNP mutations, which have been documented in the literature until now, describe the change in the DNA, the family history, the pathogenicity, and the number of described cases, which has not been published in this complexity before. We also provide a description of each genetic prion disease type, present characteristic histopathological features, and the PrPSc isoform expression pattern of various familial/genetic prion diseases." @default.
- W2463575404 created "2016-07-22" @default.
- W2463575404 creator A5005787374 @default.
- W2463575404 creator A5007540163 @default.
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- W2463575404 creator A5028207834 @default.
- W2463575404 creator A5047812313 @default.
- W2463575404 creator A5066508131 @default.
- W2463575404 creator A5067666048 @default.
- W2463575404 date "2016-06-20" @default.
- W2463575404 modified "2023-10-17" @default.
- W2463575404 title "Hereditary Human Prion Diseases: an Update" @default.
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