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Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia

Many genetic neurological disorders exhibit variable expression within affected families, often exemplified by variations in disease age at onset. Epistatic effects (i.e. effects of modifier genes on the disease gene) may underlie this variation, but the mechanistic basis for such epistatic interact...

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Detalles Bibliográficos
Autores principales: Newton, Timothy, Allison, Rachel, Edgar, James R, Lumb, Jennifer H, Rodger, Catherine E, Manna, Paul T, Rizo, Tania, Kohl, Zacharias, Nygren, Anders O H, Arning, Larissa, Schüle, Rebecca, Depienne, Christel, Goldberg, Lisa, Frahm, Christiane, Stevanin, Giovanni, Durr, Alexandra, Schöls, Ludger, Winner, Beate, Beetz, Christian, Reid, Evan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5917785/
https://www.ncbi.nlm.nih.gov/pubmed/29481671
http://dx.doi.org/10.1093/brain/awy034