Exome sequencing to identify de novo mutations in sporadic ALS trios

ALS is a devastating neurodegenerative disease whose causes are still poorly understood. To identify additional genetic risk factors, here we assess the role of de novo mutations in ALS by sequencing the exomes of 47 ALS patients and both of their unaffected parents (n=141 exomes). We found that ami...

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書誌詳細
主要な著者: Chesi, Alessandra, Staahl, Brett T., Jovicic, Ana, Couthouis, Julien, Fasolino, Maria, Raphael, Alya R., Yamazaki, Tomohiro, Elias, Laura, Polak, Meraida, Kelly, Crystal, Williams, Kelly L., Fifita, Jennifer A., Maragakis, Nicholas J., Nicholson, Garth A., King, Oliver D., Reed, Robin, Crabtree, Gerald R., Blair, Ian P., Glass, Jonathan D., Gitler, Aaron D.
フォーマット: Artigo
言語:Inglês
出版事項: 2013
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3709464/
https://ncbi.nlm.nih.gov/pubmed/23708140
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nn.3412
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