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Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene

OBJECTIVES: Genetic Creutzfeldt-Jakob disease (CJD) due to V180I mutation in the prion protein gene (PRNP) is of great interest because of the differences from sporadic CJD and other genetic prion diseases in terms of clinical features, as well as pathological and biochemical findings. However, few...

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Detalles Bibliográficos
Autores principales: Qina, Temu, Sanjo, Nobuo, Hizume, Masaki, Higuma, Maya, Tomita, Makoto, Atarashi, Ryuichiro, Satoh, Katsuya, Nozaki, Ichiro, Hamaguchi, Tsuyoshi, Nakamura, Yosikazu, Kobayashi, Atsushi, Kitamoto, Tetsuyuki, Murayama, Shigeo, Murai, Hiroyuki, Yamada, Masahito, Mizusawa, Hidehiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4025468/
https://www.ncbi.nlm.nih.gov/pubmed/24838726
http://dx.doi.org/10.1136/bmjopen-2014-004968