Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
核孔复合体亚基 NUP107 的双等位基因突变导致儿童早期发病的类固醇耐药性肾病综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2015.08.013
Noriko Miyake, Hiroyasu Tsukaguchi, Eriko Koshimizu, Akemi Shono, Satoko Matsunaga, Masaaki Shiina, Yasuhiro Mimura, Shintaro Imamura, Tomonori Hirose, Koji Okudela, Kandai Nozu, Yuko Akioka, Motoshi Hattori, Norishige Yoshikawa, Akiko Kitamura, Hae Il Cheong, Shoji Kagami, Michiaki Yamashita, Atsus