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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Detalles Bibliográficos
Autores principales: Piazza, Megan, Prior, Thomas W., Khalsa, Prabhjot S., Appleby, Brian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057106/
https://www.ncbi.nlm.nih.gov/pubmed/31953922
http://dx.doi.org/10.1002/mgg3.1134

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057106/
https://www.ncbi.nlm.nih.gov/pubmed/31953922
http://dx.doi.org/10.1002/mgg3.1134

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