The Japanese Biochemical Society

[P-812] CLP1 p.R140H mutation causes a pathogenic tyrosine pre-tRNA fragments accumulation

Ikuko Morisaki1, Hiroshi Shiraishi1, Hiroyuki Fujinami1, Yuji Arai2, Takashi Kobayashi3, Reiko Hanada4, Toshikatsu Hanada1 (1.Department of Cell Biology, Oita University Faculty of Medicine, 2.National Cerebral and Cardiovascular Center, 3.Department of Infectious Disease Control, Oita University Faculty of Medicine, 4.Department of Neurophysiology, Oita University Faculty of Medicine)

キーテクノロジー:CRISPR/Cas9

橋小脳低形成症10型

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