Rare genetic E196A mutation in a patient with Creutzfeldt–Jakob disease: a case report and literature

Genetic Creutzfeldt–Jakob disease (gCJD) is characterized by mutations in the PRNP gene and represents approximately 10–15% of the human prion diseases. Here, we report a 42-year-old Chinese man who was diagnosed with gCJD. The patient had a rare mutation in codon 196 (E196A) of PRNP leading to an e...

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Detalles Bibliográficos
Autores principales: Wu, Xiping, Cui, Zhao, Guomin, Xie, Wang, Haifeng, Zhang, Xiaoling, Li, Zhiguang, Sun, Qi, Qi, Feiteng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7518748/
https://www.ncbi.nlm.nih.gov/pubmed/32501129
http://dx.doi.org/10.1080/19336896.2020.1769528

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