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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Dades bibliogràfiques
Publicat a:Neurobiol Aging
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2017
Matèries:
Genetic Report Abstract
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5302213/
https://ncbi.nlm.nih.gov/pubmed/28089114
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.neurobiolaging.2016.12.013
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