Presentation Information
[O12-2]RNAseq analysis and targeted longread sequencing to unravel complicated splicing abnormalities in dystrophinopathy
○Mariko Okubo1,2, Satoru Noguchi1, Tomonari Awaya3, Shinichirou Hayashi1, Ichizo Nishino1 (1.Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan, 2.Department of Human Genetics, National Center for Global Health and Medicine, 3.Center for Anatomical Studies, Graduate School of Medicine, Kyoto University)