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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Detalles Bibliográficos
Autores principales: Balak, Chris D., Hunter, Jesse M., Ahearn, Mary E., Wiley, David, D'urso, Gennaro, Baumbach-Reardon, Lisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5615770/
https://www.ncbi.nlm.nih.gov/pubmed/29034082
http://dx.doi.org/10.12688/f1000research.11878.1

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