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Aicardi-Goutières syndrome associated mutation at ADAR1 gene locus activates innate immune response in mouse brain

2021-04-03

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold>Aicardi-Goutières syndrome (AGS) is a severe infant or juvenile-onset autoimmune disease characterized by inflammatory encephalopathy with an elevated Type 1 interferon-stimulated gene (ISG) expression signature in the brain. Mutations in seven different protein-coding genes, all linked to DNA/RNA metabolism or sensing, have been identified in AGS patients, but no...

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Literature Corpus work
66c95db2-f278-5112-a27d-010ef3de703e
DOI
10.21203/rs.3.rs-379977/v1
Open publication

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Aicardi-Goutières syndrome associated mutation at ADAR1 gene locus activates innate immune response in mouse brainDOI 10.21203/rs.3.rs-379977/v1
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