Rare V203I mutation in the PRNP gene of a Chinese patient with Creutzfeldt–Jakob disease

Here, we report 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 (Val) to isoleucine (I) at codon 203 (V203I). The 80-y-old male presented with sudden memory loss, rapid loss of vocabulary, inatte...

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書誌詳細
主要な著者: Shi, Qi, Chen, Cao, Wang, Xian-Jun, Zhou, Wei, Wang, Ji-Chun, Zhang, Bao-Yun, Tian, Chan, Gao, Chen, Han, Jun, Dong, Xiao-Ping
フォーマット: Artigo
言語:Inglês
出版事項: Landes Bioscience 2013
主題:
Short Communication
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3783113/
https://ncbi.nlm.nih.gov/pubmed/23764840
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/pri.24674
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