JSCN2019

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English session

Genetics / Genetic abnormality

[E5] English session
Genetics / Genetic abnormality

Sat. Jun 1, 2019 1:30 PM - 2:30 PM Room 8 (Conference Room 131+132, 3F, Bldg. 1)

Chair: Toshiki Takenouchi (Department of Pediatrics, Keio University School of Medicine), Hitoshi Osaka (Department of Pediatrics, Jichi Medical University)

[E-027] Severe mitochondrial neurogastrointestinal encephalomyopathy caused by DNA ligase enzyme deficiency

Mariko Taniguchi-Ikeda1,2, Makiko Tsutsumi2, Yoshinobu Oyazato3, Atsushi Nishiyama3, Shunpei Uchino4,5, Masakazu Mimaki5, Hiroki Kurahashi1,2 (1.Department of Clinical Genetics, Fujita Health University Hospital, Aichi, Japan, 2.Department of Molecular Genetics, Fujita Health University, Aichi, Japan, 3.Department of Pediatrics, Kakogawa Central City Hospital, Hyogo, Japan, 4.Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan, 5.Department of Pediatrics, Teikyo University Graduate School of Medicine, Tokyo, Japan)

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