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Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy
Background: X-linked spinal muscular atrophy (XL-SMA) results from mutations in the Ubiquitin-Like Modifier Activating Enzyme 1 ( UBA1). Previously, four novel closely clustered mutations have been shown to cause this fatal infantile disorder affecting only males. These mutations, three missense and...
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| 出版年: | F1000Res |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
F1000Research
2017
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5615770/ https://ncbi.nlm.nih.gov/pubmed/29034082 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.11878.1 |
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