Novel Partial Deletions, Frameshift and Missense Mutations of CSF1R in Patents with CSF1R-related Leukoencephalopathy
Takanobu Ishiguro,Takuya Konno,Norikazu Hara, Bin Zhu,Satoshi Okada,Mamoru Shibata,Reiko Saika,Takaya Kitano,Megumi Toko,Tomohisa Nezu,Yuka Hama,Tomoya Kawazoe,Ikuko Takahashi-Iwata,Ichiro Yabe,Kota Sato,Hayato Takeda,Shintaro Toda,Jin Nishimiya,Toshiyuki Teduka,Hiroaki Nozaki,Kensaku Kasuga,Akinori Miyashita,Osamu Onodera,Takeshi Ikeuchi European Journal of Neurology（2023）
关键词
adult-onset leukoencephalopathy,copy number variations,CSF1R,deletion,mutational analysis
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