Japanese patients with mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations
日本线粒体 3-羟基-3-甲基戊二酰辅酶 A 合酶缺乏症患者:五种新型 HMGCS2 突变的体外功能分析
期刊:Experimental and Therapeutic Medicine
影响因子:2.4
doi:10.3892/etm.2020.9166
Yasuhiko Ago, Hiroki Otsuka, Hideo Sasai, Elsayed Abdelkreem, Mina Nakama, Yuka Aoyama, Hideki Matsumoto, Ryoji Fujiki, Osamu Ohara, Kazumasa Akiyama, Kaori Fukui, Yoriko Watanabe, Yoko Nakajima, Hidenori Ohnishi, Tetsuya Ito, Toshiyuki Fukao