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

Rice, Gi; Kasher, Pr; Forte, Gm; 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, M.; Desguerre, I.; Fazzi, Elisa Maria; Garcia Cazorla, A.; Heiberg, A.; Kawaguchi, M.; Kumar, R.; Lin, Jp; Lourenco, Cm; Male, Am; Marques W., Jr; Mignot, C.; Olivieri, I.; Orcesi, S.; Prabhakar, P.; Rasmussen, M.; Robinson, Ra; Rozenberg, F.; Schmidt, Jl; Steindl, K.; Tan, Ty; van der Merwe, Wg; Vanderver, A.; Vassallo, G.; Wakeling, El; Wassmer, E.; Whittaker, E.; Livingston, Jh; Lebon, P.; Suzuki, T.; Mclaughlin, Pj; Keegan, Lp; O'Connell, Ma; Lovell, Sc; Crow, Yj