Presentation Information
[P1-10-3]Large deletion involving enhancer region of the OTC gene identified in a OTC deficient-family by whole-genome sequencing
○Yasuaki Yasuda1, Yoko Nakajima1, Yuta Sudo1, Rie Kawamura2, Hidehito Inagaki2, Tetsuya Ito2, Hiroki Kurahashi2 (1.Department of Pediatrics, Fujita Health University School of Medicine, Toyoake, Japan, 2.Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan)