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Novel mutation of the PRNP gene of a clinical CJD case

BACKGROUND: Transmissible spongiform encephalopathies (TSEs), a group of neurodegenerative diseases, are thought to be caused by an abnormal isoform of a naturally occurring protein known as cellular prion protein, PrP(C). The abnormal form of prion protein, PrP(Sc )accumulates in the brain of affec...

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Detalles Bibliográficos
Autores principales: Kotta, Konstantia, Paspaltsis, Ioannis, Bostantjopoulou, Sevasti, Latsoudis, Helen, Plaitakis, Andreas, Kazis, Dimitrios, Collinge, John, Sklaviadis, Theodoros
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2006
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1693557/
https://www.ncbi.nlm.nih.gov/pubmed/17129366
http://dx.doi.org/10.1186/1471-2334-6-169