Open AccessJapanese patients with mitochondrial 3‑hydroxy‑3‑methylglutaryl‑CoA synthase deficiency: <em>In vitro</em> functional analysis of five novel <em>HMGCS2</em> mutations
Author(s) -
Yasuhiko Ago,
Hiroki Otsuka,
Hideo Sasai,
Elsayed Abdelkreem,
Mikama,
Yuka Aoyama,
Hideki Matsumoto,
Ryoji Fujiki,
Osamu Ohara,
Kazumasa Akiyama,
Kaori Fukui,
Yoriko Watanabe,
Yoko Nakajima,
Hiroyuki Ohnishi,
Tetsuya Ito,
Toshiyuki Fukao
Publication year - 2020
Publication title -
experimental and therapeutic medicine
Language(s) - English
Resource type - Journals
eISSN - 1792-1015
pISSN - 1792-0981
DOI - 10.3892/etm.2020.9166
Subject(s) - oncogene , in vitro , apoptosis , atp synthase , molecular medicine , biology , cell cycle , microbiology and biotechnology , chemistry , biochemistry , enzyme