Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
对成人起病的伴有轴突球状体和色素胶质细胞的脑白质病患者中,包括CSF1R基因第4外显子移码突变在内的新型突变进行鉴定和功能表征
期刊:Journal of Neurology
影响因子:4.6
doi:10.1007/s00415-018-9017-2
Miura, Takeshi; Mezaki, Naomi; Konno, Takuya; Iwasaki, Akio; Hara, Naoyuki; Miura, Masatomo; Funayama, Michitaka; Unai, Yuki; Tashiro, Yuichi; Okita, Kenji; Kihara, Takeshi; Ito, Nobuo; Kanatsuka, Yoichi; Jones, David T; Hara, Norikazu; Ishiguro, Takanobu; Tokutake, Takayoshi; Kasuga, Kensaku; Nozaki, Hiroaki; Dickson, Dennis W; Onodera, Osamu; Wszolek, Zbigniew K; Ikeuchi, Takeshi