Rice, Gillian I

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