First pathogenic non-coding variant in MMACHC: a functional deletion in the 5'-UTR associated with cobalamin C deficiency.
作者信息
Zhang Ying, Wang Leyi, Liu Xiangyu, Sun Mei, Wang Hong, Li Jiaci, Zhang Shuyue, Zhang Ning, Li Dong, Shu Jianbo, Cai Chunquan
机构信息
Graduate College of Tianjin Medical University, No. 22 Qixiangtai Road, Heping District, Tianjin, 300070, China.
Department of Neurology, Tianjin Children's Hospital (Children's Hospital of Tianjin University), No. 238 Longyan Road, Beichen District, Tianjin, 300134, China.
出版信息
Mol Biol Rep. 2025 Sep 9;52(1):877. doi: 10.1007/s11033-025-10935-z.
PMID:40924230
Abstract
摘要
Zotero 插件