Panencephalopathic Creutzfeldt‐Jakob Disease with Distinct Pattern of Prion Protein Deposition in a Patient with D178N Mutation and Homozygosity for Valine at Codon 129 of the Prion Protein Gene

Prion diseases include sporadic, acquired and genetic forms linked to mutations of the prion protein (PrP) gene (PRNP). In subjects carrying the D178N PRNP mutation, distinct phenotypes can be observed, depending on the methionine/valine codon 129 polymorphism. We present here a 53‐year‐old woman wi...

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Detalhes bibliográficos
Publicado no:Brain Pathol
Main Authors: Marcon, Gabriella, Indaco, Antonio, Di Fede, Giuseppe, Suardi, Silvia, Finato, Nicoletta, Moretti, Valentino, Micoli, Sandro, Fociani, Paolo, Zerbi, Pietro, Pincherle, Alessandro, Redaelli, Veronica, Tagliavini, Fabrizio, Giaccone, Giorgio
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2013
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8029333/
https://ncbi.nlm.nih.gov/pubmed/24118545
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/bpa.12095
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