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Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis

Truncating mutations in PRNP have been associated with heterogeneous phenotypes ranging from chronic diarrhea and neuropathy to dementia, either rapidly or slowly progressive. We identified novel PRNP stop‐codon mutations (p.Y163X, p.Y169X) in two Italian kindreds. Disease typically presented in the...

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Detalles Bibliográficos
Autores principales:	Capellari, Sabina, Baiardi, Simone, Rinaldi, Rita, Bartoletti‐Stella, Anna, Graziano, Claudio, Piras, Silvia, Calandra‐Buonaura, Giovanna, D'Angelo, Roberto, Terziotti, Camilla, Lodi, Raffaele, Donadio, Vincenzo, Pironi, Loris, Cortelli, Pietro, Parchi, Piero
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Brief Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5989776/ https://www.ncbi.nlm.nih.gov/pubmed/29928661 http://dx.doi.org/10.1002/acn3.568

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