2:20 PM - 2:45 PM

[1W5-p-2] Abnormal Endosome System Equilibrium in MIRAGE Syndrome Caused by Activating SAMD9 Mutations

〇Satoshi Narumi¹, Naoko Amano¹, Tomohiro Ishii¹, Noriyuki Katsumata², Ryuji Fukuzawa³, Shinsuke Shibata⁴, Hideyuki Okano⁴, Atsushi Shimizu⁵, Noriko Miyake⁶, Naomichi Matsumoto⁶, Tomonobu Hasegawa¹ (1.Pediatrics, Keio Univ. Sch. of Med., 2.Mol. Endocrinol., Natl. Res. Institute for Child Health & Dev., 3.Pathology, Tokyo Met. Children Med. Center, 4.Physiology, Keio Univ. Sch. of Med., 5.Tohoku Med. Megabank Organization, 6.Hum. Genet., Yokohama City Univ.)

エンドソーム, 単一遺伝子異常