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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Main Authors: Ignazio Cali, Laura Cracco, Dario Saracino, Rossana Occhipinti, Cinzia Coppola, Brian Stephen Appleby, Gianfranco Puoti
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020-07-01
Colecção:Frontiers in Cellular Neuroscience
Assuntos:
genetic
histopathology
Prion protein (PrP)
insertion mutation
conformation
Acesso em linha:https://www.frontiersin.org/article/10.3389/fncel.2020.00150/full
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