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[2PT26-01(3P-1124)] Nonsense-associated altered splicing leading to a human disorder: Identification of MAP3K1 mutations in two brothers with 46,XY disorders of sex development

〇Maki Igarashi1, Kenichi Kinjo2, Reiko Horikawa2, Tsutomu Ogata3, Maki Fukami1 (1.Dept. of Mol. Endocrinol., Inst. for NCCHD, 2.Dept. of Endocrinol. Metabo., Inst. for NCCHD, 3.Dept. of Pediatrics, Hamamatsu Univ. Sch. of Med.)

nonsense-associated altered splicing、46,XY disorders of sex development、MAP3K1

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