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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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 2014
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4025468/
https://ncbi.nlm.nih.gov/pubmed/24838726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjopen-2014-004968
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