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Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases
A novel point mutation resulting in a glutamate-to-glycine substitution in PRNP at codon 200, E200G with codon 129 MV polymorphism (cis valine) and type 2 PrP(Sc) was identified in a patient with a prolonged disease course leading to pathology-proven Jakob-Creutzfeldt disease. Despite the same codon...
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| 主要な著者: | , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2013
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3880091/ https://ncbi.nlm.nih.gov/pubmed/24330864 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/2051-5960-1-80 |
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