Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48)
常染色体显性脊髓小脑共济失调 48 型 (SCA48) 中新型 STUB1 移码突变的临床和功能特征
期刊:Journal of Biomedical Science
影响因子:9
doi:10.1186/s12929-021-00763-1
Huan-Yun Chen, Chia-Lang Hsu, Han-Yi Lin, Yung-Feng Lin, Shih-Feng Tsai, Yu-Jung Ho, Ye-Ru Li, Jin-Wu Tsai, Shu-Chun Teng, Chin-Hsien Lin0