UBA5 mutations cause a new form of autosomal recessive cerebellar ataxia
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Autosomal recessive cerebellar ataxia (ARCA) comprises a large and heterogeneous group of neurodegenerative disorders. Through whole-exome sequencing, we identified compound heterozygous mutations in ubiquitin-like modifier activating enzyme 5 gene (<i>UBA5</i>) in two Chinese siblings presenting with ARCA.
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figshare创建时间：
2016-01-07
