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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Autores principales: 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.
格式: Online 文件 Texto
语言:English
出版: 2013
主题:
Article
在线阅读:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3709464/
https://www.ncbi.nlm.nih.gov/pubmed/23708140
http://dx.doi.org/10.1038/nn.3412

因特网

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3709464/
https://www.ncbi.nlm.nih.gov/pubmed/23708140
http://dx.doi.org/10.1038/nn.3412

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