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Familial prion disease in a Hungarian family with a novel 144‐base pair insertion in the prion protein gene

About 15% of human prion diseases are inherited, and are associated with point or insertional mutations of the prion protein gene (PRNP). Four families with six octapeptide repeat insertions (OPRI) in the PRNP gene have been described in the literature so far. Here we report two cases in a Hungarian...

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書誌詳細
主要な著者: Kovács, T, Beck, J A, Papp, M I, Lantos, P L, Arányi, Z, Szirmai, I G, Farsang, M, Stuke, A, Csillik, A, Collinge, J
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Group 2007
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2117636/
https://ncbi.nlm.nih.gov/pubmed/17308293
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jnnp.2006.104372
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