A small deletion in C9orf72 hides a proportion of expansion carriers in FTLD

Frontotemporal lobar degeneration is a highly familial disease and the most common known genetic cause is the repeat expansion mutation in the gene C9orf72. We have identified 2 brothers with an expansion mutation in C9orf72 using Southern blotting that is undetectable using repeat-primed polymerase...

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Detalles Bibliográficos
Autores principales: Rollinson, Sara, Bennion Callister, Janis, Young, Kate, Ryan, Sarah J., Druyeh, Ronald, Rohrer, Jonathan D., Snowden, Julie, Richardson, Anna, Jones, Matt, Harris, Jenny, Davidson, Yvonne, Robinson, Andrew, Ealing, John, Johnson, Janel O., Traynor, Bryan, Mead, Simon, Mann, David, Pickering-Brown, Stuart M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Genetic Report Abstract
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4353501/
https://www.ncbi.nlm.nih.gov/pubmed/25595499
http://dx.doi.org/10.1016/j.neurobiolaging.2014.12.009

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