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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Publicado en:Neurobiol Aging
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2018
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Article
Acceso en liña: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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