Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. [electronic resource]
- Neuropediatrics Dec 2016
- 355-360 p. digital
Publication Type: Journal Article; Review
1439-1899
10.1055/s-0036-1592307 doi
Adenosine Deaminase--genetics Autoimmune Diseases of the Nervous System--cerebrospinal fluid Exodeoxyribonucleases--genetics Genetic Association Studies Humans Interferon-Induced Helicase, IFIH1--genetics Interferons--cerebrospinal fluid Magnetic Resonance Imaging Monomeric GTP-Binding Proteins--genetics Mutation--genetics Nervous System Malformations--cerebrospinal fluid Phosphoproteins--genetics RNA-Binding Proteins--genetics Ribonuclease H--genetics SAM Domain and HD Domain-Containing Protein 1