Diagnostic journey and genetic analysis of a novel homozygous CYP2U1 mutation causing autosomal recessive spastic paraplegia type 56 (SPG56) in a consanguineous family
近亲结婚家族中一种新型纯合CYP2U1突变导致常染色体隐性遗传痉挛性截瘫56型(SPG56)的诊断历程及基因分析
期刊:BMC Neurology
影响因子:2.2
doi:10.1186/s12883-025-04211-7
Yu, Hong-Ping; Zou, Jing; Chen, Xiang; Chen, Ying; Ruan, Dan-Dan; Chen, Qian; Zhang, Jian-Hui; Cheng, Qiong; Ruan, Xing-Lin; Wen, Wei; Chen, Li; Luo, Jie-Wei; Li, Yun-Fei; Jiang, Xiao-Lin