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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
Nat Genet. 2009 Jul;41(7):829-32. doi: 10.1038/ng.373. Epub 2009 Jun 14.
Nat Genet. 2009.
PMID: 19525956
Free PMC article.
SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.
Goncalves A, Karayel E, Rice GI, Bennett KL, Crow YJ, Superti-Furga G, Bürckstümmer T.
Goncalves A, et al.
Hum Mutat. 2012 Jul;33(7):1116-22. doi: 10.1002/humu.22087. Epub 2012 Apr 16.
Hum Mutat. 2012.
PMID: 22461318
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