Aicardi–Goutières syndrome: clues from the RNase H2 knock-out mouse
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Drug Discovery,Molecular Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00109-013-1061-x.pdf
Reference54 articles.
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2. McEntagart M, Kamel H, Lebon P, King MD (1998) Aicardi–Goutières syndrome: an expanding phenotype. Neuropediatrics 29:163–167
3. Aicardi J, Goutieres F (1984) A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 15:49–54
4. Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA et al (2009) Mutations involved in Aicardi–Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet 41:829–832
5. Xin B, Jones S, Puffenberger EG, Hinze C, Bright A, Tan H, Zhou A, Wu G, Vargus-Adams J, Agamanolis D et al (2011) Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. Proc Natl Acad Sci U S A 108:5372–5377
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