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Genotype-phenotype analysis in inherited prion disease with eight octapeptide repeat insertional mutation

A minority of inherited prion diseases (IPD) are caused by four to 12 extra octapeptide repeat insertions (OPRI) in the prion protein gene (PRNP). Only four families affected by IPD with 8-OPRI have been reported, one of them was a three-generation Swedish kindred in which four of seven affected sub...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Paucar, Martin, Xiang, Fengqing, Moore, Richard, Walker, Ruth H, Winnberg, Elisabeth, Svenningsson, Per
التنسيق: Artigo
اللغة:Inglês
منشور في: Landes Bioscience 2013
الموضوعات:
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC4201619/
https://ncbi.nlm.nih.gov/pubmed/24275071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/pri.27260
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