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Imilar to TREX1, mutations in SAMHD1 including biallelic null alleles as well as missense mutations have been associated with Aicardi-Goutieres syndrome. At least 16 different mutations in the SAMHD1 gene have been reported in patients with Aicardi-Goutieres syndrome [98?01]. These mutations result in loss-offunction of the SAMHD1 protein. However, how this protein dysfunction leads to immune syst
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