Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature
与尼曼-匹克病C型相关的NPC1基因新型复合杂合突变:病例报告及文献综述
期刊:BMC Infectious Diseases
影响因子:3
doi:10.1186/s12879-024-09025-5
Tao, Chaoxin; Zhao, Min; Zhang, Xiaohui; Hao, Jihong; Huo, Qiuyue; Sun, Jie; Xing, Jiangtao; Zhang, Yuna; Zhao, Jianhong; Huang, Huaipeng