Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.
脊髓运动神经病患者由于 RBM7 纯合突变导致 RNA 代谢改变
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddw149
Giunta Michele, Edvardson Shimon, Xu Yaobo, Schuelke Markus, Gomez-Duran Aurora, Boczonadi Veronika, Elpeleg Orly, Müller Juliane S, Horvath Rita