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Evidence for a Pathogenic Role of Different Mutations at Codon 188 of PRNP

Clinical and pathological changes in familial Creutzfeldt-Jakob disease (CJD) cases may be similar or indistinguishable from sporadic CJD. Therefore determination of novel mutations in PRNP remains of major importance. We identified two different rare mutations in codon 188 of the prion protein gene...

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Detalles Bibliográficos
Autores principales: Roeber, Sigrun, Grasbon-Frodl, Eva-Maria, Windl, Otto, Krebs, Bjarne, Xiang, Wei, Vollmert, Caren, Illig, Thomas, Schröter, Andreas, Arzberger, Thomas, Weber, Petra, Zerr, Inga, Kretzschmar, Hans A.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2008
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2366066/
https://www.ncbi.nlm.nih.gov/pubmed/18478114
http://dx.doi.org/10.1371/journal.pone.0002147