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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Hlavní autoři: Kovács, T, Beck, J A, Papp, M I, Lantos, P L, Arányi, Z, Szirmai, I G, Farsang, M, Stuke, A, Csillik, A, Collinge, J
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2007
Témata:
Short Report
On-line přístup: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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