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Update on DNA-Double Strand Break Repair Defects in Combined Primary Immunodeficiency

9 Jul 2020

Abstract excerpt

PURPOSE OF REVIEW: The most serious DNA damage, DNA double strand breaks (DNA-dsb), leads to mutagenesis, carcinogenesis or apoptosis if left unrepaired. Non-homologous end joining (NHEJ) is the principle repair pathway employed by mammalian cells to repair DNA-dsb. Several proteins are involved in this pathway, defects in which can lead to human disease. This review updates on the most recent information...

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PMID: 32648006
DOI: 10.1007/s11882-020-00955-z

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