Presentation Information
[O8-4]Identification of intronic variants in NDUFA3 as a cause of Leigh syndrome by multi-omics analysis
○Kohta Nakamura1, Yoshihito Kishita1,2, Ayumu Sugiura1, Atsuko Okazaki1, Kokoro Ozaki1,3, Yukiko Yatsuka1, Naoyuki Matsumoto1, Akira Ohtake4,7, Kei Murayama1,5, Yuichi Shiraishi6, Yasushi Okazaki1,3, Hiroshi Matsumoto7 (1.Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, 2.Department of Life Science, Faculty of Science and Engineering, Kindai University, 3.Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, 4.Department of Clinical Genomics, Saitama Medical University, 5.Department of Metabolism, Chiba Children Hospital, 6.Division of Genome Analysis Platform Development, National Cancer Center Research Institute, 7.Department of Pediatrics , Saitama Medical University)