著者名,論文名,雑誌名,ISSN,出版者名,出版日付,巻,号,ページ,URL,URL(DOI)
Keiko Yamamoto-Shimojima and Taichi Imaizumi and Yusuke Aoki and Ken Inoue and Tadashi Kaname and Yusuke Okuno and Hideki Muramatsu and Kohji Kato and Toshiyuki Yamamoto,Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1,Journal of Human Genetics,1434-5161,Springer Science and Business Media LLC,2019-04-19,64,7,665-671,https://cir.nii.ac.jp/crid/1360004233458313472,https://doi.org/10.1038/s10038-019-0600-x