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)

[1LBA-092] Characterization of a de novo CHD7 mutation at the exon/intron junction in a patient with CHARGE syndrome

〇Yuko Katoh-fukui1, Shuichi Yatsuga2, Hirohito Shima1, Atsushi Hattori1, Akie Nakamura1, Kohji Okamura3, Kumiko Yanagi4, Manami Iso4, Tadashi Kaname4, Yoichi Matsubara5, Maki Fukami1 (1.Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2.Department of Pediatrics and Child Health, Kurume University School of Medicine, 3.Department of Systems BioMedicine, National Research Institute for Child Health and Development, 4.Department of Genome Medicine, National Research Institute for Child Health and Development, 5.Director, National Research Institute for Child Health and Development)

CHARGE　syndrome、CHD7、splicing variation

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