Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition
外显子组测序成功利用核黄素治疗快速进展的神经系统疾病
期刊:Cold Spring Harbor Molecular Case Studies
影响因子:1.8
doi:10.1101/mcs.a000257
Slavé Petrovski, Vandana Shashi, Steven Petrou, Kelly Schoch, Keisha Melodi McSweeney, Ryan S Dhindsa, Brian Krueger, Rebecca Crimian, Laura E Case, Roha Khalid, Maysantoine A El-Dairi, Yong-Hui Jiang, Mohamad A Mikati, David B Goldstein