NameAicardi-Goutières syndrome (A:I)
DescriptionADAR acts as a suppressor of type I interferon signaling
Related RNA reactionA:I
Found in RNAmRNA
Modified Transcript
Mapping TechnologySanger and exome sequencing
Quantification techniquesRT-PCR

Enzymes connected to this disease:

Acronym Full name Enzyme Role Organism
ADARB1 Double-stranded RNA-specific editase 1 Homo sapiens


ID Title Authors Journal Details PubMed Id DOI
963 Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Gillian I Rice Nat Genet [details] 23001123 10.1038/ng.2414

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