The Japanese Biochemical Society/The Molecular Biology Society of Japan

2:20 PM - 2:30 PM

[4T18p-03(3P1259)] Structural and functional impacts of mutations causing Barth syndrome and alternative splicing in the Tafazzin acyltransferase domain

〇Atsushi Hijikata1, Kei Yura2, Osamu Ohara3,4, Mitiko Go1,5,6 (1.Nagahama Inst. Bio-Sci. and Tech., 2.Grad. Sch. of Hum. and Sci., Ochanomizu Univ., 3.Kazusa DNA Res. Inst., 4.RIKEN, IMS, 5.ROIS, 6.Nagoya Univ.)

disease-causing mutations, inherited disease, homology modeling, immunodeficiency

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