Case Report: Histopathology and Prion Protein Molecular Properties in Inherited Prion Disease With a De Novo Seven-Octapeptide Repeat Insertion

The insertion of additional 168 base pair containing seven octapeptide repeats in the prion protein (PrP) gene region spanning residues 51–91 is associated with inherited prion disease. In 2008, we reported the clinical features of a novel de novo seven-octapeptide repeat insertion (7-OPRI) mutation...

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Publicado en:Front Cell Neurosci
Autores principales: Cali, Ignazio, Cracco, Laura, Saracino, Dario, Occhipinti, Rossana, Coppola, Cinzia, Appleby, Brian Stephen, Puoti, Gianfranco
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2020
Materias:
Cellular Neuroscience
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7362343/
https://ncbi.nlm.nih.gov/pubmed/32733203
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fncel.2020.00150
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