周围神经病变
医学
外围设备
三核苷酸重复扩增
皮肤病科
遗传学
内科学
生物
内分泌学
基因
糖尿病
等位基因
作者
Takahiro Hobara,Masahiro Ando,Yujiro Higuchi,Junhui Yuan,Akiko Yoshimura,Fumikazu Kojima,Yutaka Noguchi,Jun Takei,Yoshihiro Hiramatsu,Satoshi Nozuma,Tomonori Nakamura,Tadashi Adachi,Keiko Toyooka,Toru Yamashita,Yusuke Sakiyama,Akihiro Hashiguchi,Eiji Matsuura,Yuji Okamoto,Hiroshi Takashima
标识
DOI:10.1136/jnnp-2024-333403
摘要
The causative genes for over 60% of inherited peripheral neuropathy (IPN) remain unidentified. This study endeavours to enhance the genetic diagnostic rate in IPN cases by conducting screenings focused on non-coding repeat expansions.
科研通智能强力驱动
Strongly Powered by AbleSci AI