XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency

Chaowan Guo; Yuka Nakazawa; Mayuko Shimada; Nan Jia; Kiyonobu Karata; Yasuyoshi Oka; Hitomi Miyazaki; Chikako Senju; Tomoo Ogi

4:45 PM - 6:45 PM

[2P0699] XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency

〇Chaowan Guo^1,3,4, Yuka Nakazawa^1,2,3, Mayuko Shimada^2,3, Nan Jia^1,3, Kiyonobu Karata^1,2,3, Yasuyoshi Oka^1,3, Hitomi Miyazaki^2,3, Chikako Senju^2,3, Tomoo Ogi^1,2,3 (1.Dept. of Genetics, RIeM, Nagoya Univ., 2.Dept. of Gen. Repair, Atom. Bomb Dise. Inst., Nagasaki Univ., 3.NRGIC, 4.Res. Fellow JSPS)

DNA double strand break repair, Non homologous end joining, XRCC4, Immunodeficiency, Microcephaly

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BMB2015 Biochemistry and Molecular Biology

[2P0699] XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency

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