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Article

RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling

16 Oct 2007

Abstract excerpt

Cellular DNA double-strand break-repair pathways have evolved to protect the integrity of the genome from a continual barrage of potentially detrimental insults. Inherited mutations in genes that control this process result in an inability to properly repair DNA damage, ultimately leading to developmental defects and also cancer predisposition. Here, we describe a patient with a previously undescribed syndrome,...

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Identifiers

PMID: 17940005
DOI: 10.1073/pnas.0708408104

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