Evaluating the causality of novel sequence variants in the prion protein gene by example

The estimation of pathogenicity and penetrance of novel prion protein gene (PRNP) variants presents significant challenges, particularly in the absence of family history, which precludes the application of Mendelian segregation. Moreover, the ambiguities of prion disease pathophysiology renders conv...

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Bibliografski detalji
Izdano u:Neurobiol Aging
Glavni autori: Mok, Tze How, Koriath, Carolin, Jaunmuktane, Zane, Campbell, Tracy, Joiner, Susan, Wadsworth, Jonathan D.F., Hosszu, Laszlo L.P., Brandner, Sebastian, Parvez, Ambereen, Truelsen, Thomas Clement, Lund, Eva Løbner, Saha, Romi, Collinge, John, Mead, Simon
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2018
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6175539/
https://ncbi.nlm.nih.gov/pubmed/29861043
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2018.05.011
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