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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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Brief Communication
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5989776/
https://ncbi.nlm.nih.gov/pubmed/29928661
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.568
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