Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature

NATURE GENETICS

Rice, GI; Kasher, PR; Forte, GMA; Mannion, NM; Greenwood, SM; Szynkiewicz, M; Dickerson, JE; Bhaskar, SS; Zampini, M; Briggs, TA; Jenkinson, EM; Bacino, CA; Battini, R; Bertini, E; Brogan, PA; Brueton, LA; Carpanelli, M; De Laet, C; de Lonlay, P; del Toro, 2012: Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature. NATURE GENETICS 44(11), p. 1243 - 1248, doi: 10.1038/ng.2414

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