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Article

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity

14 Dec 2014

Abstract excerpt

Genome integrity is continuously challenged by the DNA damage that arises during normal cell metabolism. Biallelic mutations in the genes encoding the genome surveillance enzyme ribonuclease H2 (RNase H2) cause Aicardi-Goutières syndrome (AGS), a pediatric disorder that shares features with the autoimmune disease systemic lupus erythematosus (SLE). Here we determined that heterozygous parents of AGS patients...

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PMID: 25500883
DOI: 10.1172/jci78001

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