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A case report of genetic prion disease with two different PRNP variants
BACKGROUND: Prion diseases are a group of lethal neurodegenerative conditions that occur when the normal, cellular form of the prion protein (PrP(C)) is converted into an abnormal, scrapie, form of the protein (PrP(Sc)). Disease may be caused by genetic, infectious, or sporadic etiologies. The genet...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7057106/ https://ncbi.nlm.nih.gov/pubmed/31953922 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1134 |
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