Funder
Myelin Disorders Bioregistry Project
Delman Fund for Pediatric Neurology and Education
Institute of Health III, Spain
NIH
NHMRC
National Center for Advancing Translational Sciences
K23
Subject
Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism
Reference32 articles.
1. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1;Crow;Am. J. Med. Genet. A,2015
2. Case definition and classification of leukodystrophies and leukoencephalopathies;Vanderver;Mol. Genet. Metab.,2015
3. Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus;Crow;Nat. Genet.,2006
4. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection;Crow;Nat. Genet.,2006
5. Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response;Rice;Nat. Genet.,2009
Cited by
43 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献