Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease()

C9ORF72 mutations are found in a significant fraction of patients suffering from amyotrophic lateral sclerosis and frontotemporal dementia, yet the function of the C9ORF72 gene product remains poorly understood. Here, we show that mice harboring loss-of-function mutations in the ortholog of C9ORF72...

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Publicado no:Sci Transl Med
Main Authors: Burberry, Aaron, Suzuki, Naoki, Wang, Jin-Yuan, Moccia, Rob, Mordes, Daniel A., Stewart, Morag, Suzuki-Uematsu, Satomi, Ghosh, Sulagna, Singh, Ajay, Merkle, Florian T., Koszka, Kathryn, Li, Quan-Zhen, Zon, Leonard, Rossi, Derrick J., Trowbridge, Jennifer J., Notarangelo, Luigi D., Eggan, Kevin
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5024536/
https://ncbi.nlm.nih.gov/pubmed/27412785
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/scitranslmed.aaf6038
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