Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort
MMACHC c.482G > A 突变相关的表型和结局的变异性:大型 CblC 疾病队列的随访研究
期刊:World Journal of Pediatrics
影响因子:4.5
doi:10.1007/s12519-023-00770-2
Wu, Sheng-Nan; E, Hui-Shu; Yu, Yue; Ling, Shi-Ying; Liang, Li-Li; Qiu, Wen-Juan; Zhang, Hui-Wen; Shuai, Rui-Xue; Wei, Hai-Yan; Yang, Chi-Ju; Xu, Peng; Chen, Xi-Gui; Zou, Hui; Feng, Ji-Zhen; Niu, Ting-Ting; Hu, Hai-Li; Zhang, Kai-Chuang; Lu, De-Yun; Gong, Zhu-Wen; Zhan, Xia; Ji, Wen-Jun; Gu, Xue-Fan; Chen, Yong-Xing; Han, Lian-Shu