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

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

BACKGROUND 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) and XRCC4-like factor. Patients with mutations in genes encoding LIG4, XRCC4-like factor, or the other NHEJ proteins DNA-dependent prote...

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XRCC 4 - deficiency in humans causes a marked neurological phenotype but no overt 1 immunodeficiency 2 3

29 Background: Non-homologous end-joining (NHEJ) is the major DNA double strand 30

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ژورنال

عنوان ژورنال: Journal of Allergy and Clinical Immunology

سال: 2015

ISSN: 0091-6749

DOI: 10.1016/j.jaci.2015.06.007