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Rare V180I mutation in PRNP gene of a Chinese patient with Creutzfeldt-Jakob disease

Here, we reported a Chinese case of Creutzfeldt-Jakob disease (CJD) with a rare mutation in the prion protein gene (PRNP) leading to an exchange of amino acid from valine (V) to isoleucine (I) at codon 180 (V180I). The 72 year-old Chinese women started with gradual memory loss. On admission, she did...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:Prion
Main Authors: Shi, Qi, Shen, Xiao-Jing, Zhou, Wei, Xiao, Kang, Zhang, Xiao-Mei, Zhang, Bao-Yun, Dong, Xiao-Ping
Format: Artigo
Jezik:Inglês
Izdano: Taylor & Francis 2014
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4601328/
https://ncbi.nlm.nih.gov/pubmed/25482600
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/19336896.2014.967040
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