研究業績
Nature genetics 51, 8, 1215 (2019)
Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.
著者
Jun Sone,Satomi Mitsuhashi,Atsushi Fujita,Takeshi Mizuguchi,Kohei Hamanaka,Keiko Mori,Haruki Koike,Akihiro Hashiguchi,Hiroshi Takashima,Hiroshi Sugiyama,Yutaka Kohno,Yoshihisa Takiyama,Kengo Maeda,Hiroshi Doi,Shigeru Koyano,Hideyuki Takeuchi,Michi Kawamoto,Nobuo Kohara,Tetsuo Ando,Toshiaki Ieda,Yasushi Kita,Norito Kokubun,Yoshio Tsuboi,Kazutaka Katoh,Yoshihiro Kino,Masahisa Katsuno,Yasushi Iwasaki,Mari Yoshida,Fumiaki Tanaka,Ikuo K Suzuki,Martin C Frith,Naomichi Matsumoto,Gen Sobue
カテゴリ
原著論文