UBA5 mutations cause a new form of autosomal recessive cerebellar ataxia
收藏Figshare2016-01-07 更新2026-04-08 收录
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https://figshare.com/articles/dataset/UBA5_mutations_cause_a_new_form_of_autosomal_recessive_cerebellar_ataxia/2061216/1
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资源简介：
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.
创建时间：
2016-01-07
