The Japanese Biochemical Society/The Molecular Biology Society of Japan

ConBio2017

ConBio2017

Dec 6, 2017 - Dec 9, 2017
Kobe Port Island(Kobe International Conference Center, Kobe Portopia Hotel, Kobe International Exhibition Hall, The Kobe Chamber of Commerce and Industry)

4:00 PM - 4:10 PM

[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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