Japanese patients with mitochondrial 3‑hydroxy‑3‑methylglutaryl‑CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations

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

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Medicine & Life Sciences