BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.
BCS1L 相关疾病:5'-UTR 变异使表型向轴突神经病变转变。
期刊:Annals of Clinical and Translational Neurology
影响因子:3.9
doi:10.1002/acn3.70108
Orbach Rotem, Maio Nunziata, Butterfield Russell J, Foley A Reghan, Silverstein Sarah, Li Yan, Chao Katherine, Lehky Tanya J, Potticary Abigail, Rouault Tracey A, Donkervoort Sandra, Bönnemann Carsten G