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Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Paul R Kasher,Gabriella M A Forte,Niamh M Mannion,Sam M Greenwood,Marcin Szynkiewicz,Jonathan E Dickerson,Sanjeev S Bhaskar,Massimiliano Zampini,Tracy A Briggs,Emma M Jenkinson,Carlos A Bacino,Roberta Battini,Enrico Bertini,Paul A Brogan,Louise A Brueton,Marialuisa Carpanelli,Corinne De Laet,Pascale de Lonlay,Mireia del Toro,Isabelle Desguerre,Elisa Fazzi,Angels Garcia-Cazorla,Arvid Heiberg,Masakazu Kawaguchi,Ram Kumar,Jean-Pierre S-M Lin,Charles M Lourenco,Alison M Male,Wilson Marques,Cyril Mignot,Ivana Olivieri,Simona Orcesi,Prab Prabhakar,Magnhild Rasmussen,Robert A Robinson,Flore Rozenberg,Johanna L Schmidt,Katharina Steindl,Tiong Y Tan,William G van der Merwe,Adeline Vanderver,Grace Vassallo,Emma L Wakeling,Evangeline Wassmer,Elizabeth Whittaker,John H Livingston,Pierre Lebon,Tamio Suzuki,Paul J McLaughlin,Liam P Keegan,Mary A O'Connell,Simon C Lovell,
Published on
Sept. 23, 2012
in
Nat Genet
volume
44(11)
.
PubMed ID:
23001123
DOI:
10.1038/ng.2414
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