Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.

Livingston, John H

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