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

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Guo, Chaowan; Nakazawa, Yuka; Woodbine, Lisa; Björkman, Andrea; Shimada, Mayuko; Fawcett, Heather; Jia, Nan; Ohyama, Kaname; Li, Tao-Sheng; Nagayama, Yuji; Mitsutake, Norisato; Pan-Hammarström, Qiang; Gennery, Andrew R; Lehmann, Alan R; Jeggo, Penny A; Ogi, Tomoo;
(2015)

Background\ud \ud Nonhomologous end-joining (NHEJ) is the major DNA double-strand break (DSB) repair mechanism in human cells. The final rejoining step requires DNA ligase IV (LIG4) together with the partner proteins X-ray repair cross-complementing protein 4 (XRCC4) an... View more
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