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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...
Autores principales: | Cali, Ignazio, Cracco, Laura, Saracino, Dario, Occhipinti, Rossana, Coppola, Cinzia, Appleby, Brian Stephen, Puoti, Gianfranco |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7362343/ https://www.ncbi.nlm.nih.gov/pubmed/32733203 http://dx.doi.org/10.3389/fncel.2020.00150 |
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