Genetic epidemiology of motor neuron disease-associated variants in the Scottish population

Genetic understanding of motor neuron disease (MND) has evolved greatly in the past 10 years, including the recent identification of association between MND and variants in TBK1 and NEK1. Our aim was to determine the frequency of pathogenic variants in known MND genes and to assess whether variants...

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Detalles Bibliográficos
Autores principales: Black, Holly A., Leighton, Danielle J., Cleary, Elaine M., Rose, Elaine, Stephenson, Laura, Colville, Shuna, Ross, David, Warner, Jon, Porteous, Mary, Gorrie, George H., Swingler, Robert, Goldstein, David, Harms, Matthew B., Connick, Peter, Pal, Suvankar, Aitman, Timothy J., Chandran, Siddharthan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
Genetic Report Abstract
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5302213/
https://www.ncbi.nlm.nih.gov/pubmed/28089114
http://dx.doi.org/10.1016/j.neurobiolaging.2016.12.013

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5302213/
https://www.ncbi.nlm.nih.gov/pubmed/28089114
http://dx.doi.org/10.1016/j.neurobiolaging.2016.12.013

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