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Novel prion mutation (p.Tyr225Cys) in a Korean patient with atypical Creutzfeldt–Jakob disease

Background: A novel prion variant, PRNP p.Tyr225Cys (c.674A>G; p.Y225C), was identified in an atypical Creutzfeldt–Jakob disease (CJD) patient. The patient had a 5-year history of progressive cognitive impairment with speech and gait disturbances. From the basic neurological examination at his fi...

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Detalhes bibliográficos
Publicado no:Clin Interv Aging
Main Authors: Bagyinszky, Eva, Yang, YoungSoon, Giau, Vo Van, Youn, Young Chul, An, Seong Soo A, Kim, SangYun
Formato: Artigo
Idioma:Inglês
Publicado em: Dove 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6683949/
https://ncbi.nlm.nih.gov/pubmed/31447551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/CIA.S210909
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