Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. [electronic resource]
- Nature genetics Nov 2012
- 1243-8 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1546-1718
10.1038/ng.2414 doi
Adenosine Deaminase--genetics Alu Elements--genetics Animals Autoimmune Diseases of the Nervous System--genetics Exome Gene Expression Humans Interferon Type I--genetics Mice Mutation Nervous System Malformations--genetics Protein Conformation RNA, Double-Stranded--genetics RNA-Binding Proteins Sequence Analysis, DNA Signal Transduction Structure-Activity Relationship