Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report
两名互不相关的癫痫、肌阵挛、共济失调和脊柱侧弯患者中复发性NUS1经典剪接供体位点突变——病例报告
期刊:BMC Neurology
影响因子:2.2
doi:10.1186/s12883-019-1489-x
Den, Kouhei; Kudo, Yosuke; Kato, Mitsuhiro; Watanabe, Kosuke; Doi, Hiroshi; Tanaka, Fumiaki; Oguni, Hirokazu; Miyatake, Satoko; Mizuguchi, Takeshi; Takata, Atsushi; Miyake, Noriko; Mitsuhashi, Satomi; Matsumoto, Naomichi