Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population.
分析新型 GNE 突变的致病性以及 GNE 肌病在中国人群中的临床、病理和遗传特征
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-025-03696-2
Xing Yingming, Zhao Lingqian, Zhao Renlong, Liu Qiyun, Wang Juan, Wang Le, Zhang Wei, Guo Junhong, Zhao Rongjuan, Chang Xueli
