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Rare E196A mutation in PRNP gene of 3 Chinese patients with Creutzfeldt-Jacob disease

Inherited prion diseases are characterized by mutations in the PRNP gene, which account for 5–15% of human prion diseases. Here we reported 3 Chinese genetic Creutzfeldt-Jacob disease cases (gCJD) with a rare mutation in PRNP leading to an exchange of amino acid from glutamic acid (E) to alanine (A)...

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Detaylı Bibliyografya
Yayımlandı:Prion
Asıl Yazarlar: Shi, Qi, Zhou, Wei, Chen, Cao, Zhang, Bao-Yun, Xiao, Kang, Wang, Yuan, Dong, Xiao-Ping
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Taylor & Francis 2016
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5082964/
https://ncbi.nlm.nih.gov/pubmed/27310471
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/19336896.2016.1190897
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