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.
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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
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