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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Taylor & Francis
2020
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Materias: | |
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 |