Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Nat Genet. 2012 Nov;44(11):1243-8. doi: 10.1038/ng.2414. Epub 2012 Sep 23.
Nat Genet. 2012.
PMID: 23001123
Free PMC article.