Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities
THAP11 基因突变会导致先天性钴胺素代谢缺陷和发育异常
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddx157
Anita M Quintana, Hung-Chun Yu, Alison Brebner, Mihaela Pupavac, Elizabeth A Geiger, Abigail Watson, Victoria L Castro, Warren Cheung, Shu-Huang Chen, David Watkins, Tomi Pastinen, Flemming Skovby, Bruce Appel, David S Rosenblatt, Tamim H Shaikh
