UBA5 mutations cause a new form of autosomal recessive cerebellar ataxia
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https://figshare.com/articles/dataset/UBA5_mutations_cause_a_new_form_of_autosomal_recessive_cerebellar_ataxia/2061216
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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 (UBA5)
in two Chinese siblings presenting with ARCA.
创建时间：
2016-01-07
