UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia

Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. For many affected patients, the genetic cause remains undetermined. Through whole-exome sequencing, we identified compound heterozygous mutations in ubiquitin-like modifier activati...

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Detalles Bibliográficos
Autores principales: Duan, Ranhui, Shi, Yuting, Yu, Li, Zhang, Gehan, Li, Jia, Lin, Yunting, Guo, Jifeng, Wang, Junling, Shen, Lu, Jiang, Hong, Wang, Guanghui, Tang, Beisha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752235/
https://www.ncbi.nlm.nih.gov/pubmed/26872069
http://dx.doi.org/10.1371/journal.pone.0149039

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752235/
https://www.ncbi.nlm.nih.gov/pubmed/26872069
http://dx.doi.org/10.1371/journal.pone.0149039

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