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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175539/
https://www.ncbi.nlm.nih.gov/pubmed/29861043
http://dx.doi.org/10.1016/j.neurobiolaging.2018.05.011

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175539/
https://www.ncbi.nlm.nih.gov/pubmed/29861043
http://dx.doi.org/10.1016/j.neurobiolaging.2018.05.011

Ejemplares similares