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Neuromuscular junction maturation defects precede impaired lower motor neuron connectivity in Charcot–Marie–Tooth type 2D mice
Dominant mutations in GARS, encoding the essential enzyme glycyl-tRNA synthetase (GlyRS), result in a form of Charcot–Marie–Tooth disease, type 2D (CMT2D), predominantly characterized by lower motor nerve degeneration. GlyRS charges the amino acid glycine with its cognate tRNA and is therefore essen...
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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2014
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3990164/ https://ncbi.nlm.nih.gov/pubmed/24368416 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt659 |
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