Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy [version 1; referees: 2 approved]
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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
F1000 Research Ltd
2017-09-01
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| Series: | F1000Research |
| Subjects: | |
| Online Access: | https://f1000research.com/articles/6-1636/v1 |