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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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Publicat a:Front Cell Neurosci
Autors principals: Cali, Ignazio, Cracco, Laura, Saracino, Dario, Occhipinti, Rossana, Coppola, Cinzia, Appleby, Brian Stephen, Puoti, Gianfranco
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2020
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Accés en línia: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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