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Novel de novo POLR3B mutations responsible for demyelinating Charcot-Marie-Tooth disease in Japan

Masahiro Ando,Yujiro Higuchi,Jun-Hui Yuan,Akiko Yoshimura,Ruriko Kitao, Takehiko Morimoto,Takaki Taniguchi,Mika Takeuchi,Jun Takei,Yu Hiramatsu,Yusuke Sakiyama,Akihiro Hashiguchi,Yuji Okamoto,Jun Mitsui,Hiroyuki Ishiura,Shoji Tsuji,Hiroshi Takashima

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY（2022）

Cited 7|Views29
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Key words
charcot–marie–tooth disease,mutations,de novo
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