Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12)
新生儿甲基丙二酸尿症筛查阳性可识别出 TCblR/CD320 基因的首次突变,该基因负责细胞摄取转钴胺素结合的维生素 B(12)
期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.21297
Quadros, Edward V; Lai, Shao-Chiang; Nakayama, Yasumi; Sequeira, Jeffrey M; Hannibal, Luciana; Wang, Sihe; Jacobsen, Donald W; Fedosov, Sergey; Wright, Erica; Gallagher, Renata C; Anastasio, Natascia; Watkins, David; Rosenblatt, David S