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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2018
Fag:
Brief Communication
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker