UBA5 mutations cause a new form of autosomal recessive cerebellar ataxia
收藏NIAID Data Ecosystem2026-03-09 收录
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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
