Condition: AICARDI-GOUTIERES SYNDROME 6
rs145588689 in
ADAR gene and
AICARDI-GOUTIERES SYNDROME 6
PMID 23001123 2012 Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
PMID 15724015 2005 Two frameshift mutations in the RNA-specific adenosine deaminase gene associated with dyschromatosis symmetrica hereditaria.
PMID 15955093 2005 Mutation analysis of the ADAR1 gene in dyschromatosis symmetrica hereditaria and genetic differentiation from both dyschromatosis universalis hereditaria and acropigmentatio reticularis.
PMID 24262145 2014 A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.
PMID 15146470 2004 Seven novel mutations of the ADAR gene in Chinese families and sporadic patients with dyschromatosis symmetrica hereditaria (DSH).