Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond. [electronic resource]
Producer: 20170224Description: 355-360 p. digitalISSN:- 1439-1899
- 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
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Publication Type: Journal Article; Review
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