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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Dades bibliogràfiques
Publicat a:Brain Pathol
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2013
Matèries:
Research Articles
Accés en línia: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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