Biallelic GGGCC repeat expansion leading to NAXE-related mitochondrial encephalopathy.
双等位基因 GGGCC 重复扩增导致 NAXE 相关线粒体脑病
期刊:npj Genomic Medicine
影响因子:4.8
doi:10.1038/s41525-024-00429-5
Ozaki Kokoro, Yatsuka Yukiko, Oyazato Yoshinobu, Nishiyama Atsushi, Nitta Kazuhiro R, Kishita Yoshihito, Fushimi Takuya, Shimura Masaru, Noma Shohei, Sugiyama Yohei, Tagami Michihira, Fukunaga Moe, Kinoshita Hiroko, Hirata Tomoko, Suda Wataru, Murakawa Yasuhiro, Carninci Piero, Ohtake Akira, Murayama Kei, Okazaki Yasushi