稀少疾患に関わる論文を、過日発表いたしました。
1) p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis
Misaki Onodera, Saori Tsujimoto, Syusuke Doi, Arisa Yamashita, Tetsuo Yamazaki, Takao Makifuchi , Tetsuya Inazu
Clinica Chimica Acta 523: 191-195 2021/12
2) Zinc finger protein 483 (ZNF483) regulates neuronal differentiation and methyl-CpG-binding protein 2 (MeCP2) intracellular localization
Gen Yasui,Syouichi Katayama,Yukihiko Kubota, Hisashi Takatsuka, Masahiro Ito,Tetsuya Inazu
Biochem. Biophys. Res. Commun. 568:68-75, 2021/09