Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities
CFAP43 的无义突变导致正常压力脑积水和纤毛异常
期刊:Neurology
影响因子:7.7
doi:10.1212/WNL.0000000000007505
Yoshiro Morimoto, Shintaro Yoshida, Akira Kinoshita, Chisei Satoh, Hiroyuki Mishima, Naohiro Yamaguchi, Katsuya Matsuda, Miako Sakaguchi, Takeshi Tanaka, Yoshihiro Komohara, Akira Imamura, Hiroki Ozawa, Masahiro Nakashima, Naohiro Kurotaki, Tatsuya Kishino, Koh-Ichiro Yoshiura, Shinji Ono