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Comment
. 2011 Jun 28;108(26):E232; author reply E233.
doi: 10.1073/pnas.1104699108. Epub 2011 Jun 1.

Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations

Marcel du Moulin, Peter Nürnberg, Yanick J Crow, Frank Rutsch
Comment

Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations

Marcel du Moulin et al. Proc Natl Acad Sci U S A. .
No abstract available

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Conflict of interest statement

The authors declare no conflict of interest.

Comment on

References

    1. Xin B, et al. Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. Proc Natl Acad Sci USA. 2011;108:5372–5377. - PMC - PubMed
    1. Rice GI, et al. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009;41:829–832. - PMC - PubMed
    1. Aicardi J, Crow YJ, Stephenson JBP. Aicardi–Goutières syndrome. GeneReviews. 2005. Available at http://www.genetests.org/ [updated Nov 4, 2010]
    1. Ramesh V, et al. Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis. Dev Med Child Neurol. 2010;52:725–732. - PubMed
    1. Thiele H, et al. Cerebral arterial stenoses and stroke: Novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression. Hum Mutat. 2010;31:E1836–E1850. - PMC - PubMed

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