Japanese patients with mitochondrial 3‑hydroxy‑3‑methylglutaryl‑CoA synthase deficiency: In vitro functional analysis of five novel HMGCS2 mutations
Affiliations: Department of Pediatrics, Graduate School of Medicine, Gifu University Hospital, Gifu, Gifu 501‑1194, Japan, Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag 82524, Egypt, Department of Biomedical Sciences, College of Life and Health Sciences, Education and Training Center of Medical Technology, Chubu University, Kasugai, Aichi 487‑8501, Japan, Department of Applied Genomics, Kazusa DNA Research Institute, Kisarazu, Chiba 292‑0818, Japan, Akiyama Children's Clinic, Kitami, Hokkaido 090‑0051, Japan, Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka 830‑0011, Japan, Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Aichi 470‑1192, Japan
- Published online on: September 1, 2020 https://doi.org/10.3892/etm.2020.9166
- Article Number: 39
Copyright: © Ago et al. This is an open access article distributed under the terms of Creative Commons Attribution License.