d1aa59cb8bf5dec9ce9998df4dbac580 pmc_31898846.pdf 7875f57c3725a84a41b9901be03949679d67efb0 pmc_31898846.pdf 3530e2c49eb474d9db0285dc67c42378314ce73f3919aceb81b65def547a3c31 pmc_31898846.pdf Title: Genetic and phenotypic spectrum associated with IFIH1 gain-of-function Keywords: Aicardi–Goutières syndrome, IFIH1, MDA5, Singleton Merten syndrome, Type I interferonopathy Author: Gillian I. Rice, Sehoon Park, Francesco Gavazzi, Laura A. Adang, Loveline A. Ayuk, Lien Van Eyck, Luis Seabra, Christophe Barrea, Roberta Battini, Alexandre Belot, Stefan Berg, Thierry Billette de Villemeur, Annette E. Bley, Lubov Blumkin, Odile Boespflug-Tanguy, Tracy A. Briggs, Elise Brimble, Russell C. Dale, Niklas Darin, François-Guillaume Debray, Valentina De Giorgis, Jonas Denecke, Diane Doummar, Gunilla Drake af Hagelsrum, Despina Eleftheriou, Margherita Estienne, Elisa Fazzi, François Feillet, Jessica Galli, Nicholas Hartog, Julie Harvengt, Bénédicte Heron, Delphine Heron, Diedre A. Kelly, Dorit Lev, Virginie Levrat, John H. Livingston, Itxaso Marti, Cyril Mignot, Fanny Mochel, Marie-Christine Nougues, Ilena Oppermann, Belén Pérez-Dueñas, Bernt Popp, Mathieu P. Rodero, Diana Rodriguez, Veronica Saletti, Cia Sharpe, Davide Tonduti, Gayatri Vadlamani, Keith Van Haren, Miguel Tomas Vila, Julie Vogt, Evangeline Wassmer, Arnaud Wiedemann, Callum J. Wilson, Ayelet Zerem, Christiane Zweier, Sameer M. Zuberi, Simona Orcesi, Adeline L. Vanderver, Sun Hur, Yanick J. 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LastModified: 2021-04-05 03:38:23 CEST Size: 814203 Format: PDF Version: 1.5 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 0 FreeObjects: 204 IncrementalUpdates: 0 DocumentCatalog: ViewerPreferences: HideToolbar: false HideMenubar: false HideWindowUI: false FitWindow: false CenterWindow: false DisplayDocTitle: false NonFullScreenPageMode: UseNone Direction: L2R ViewArea: CropBox ViewClip: CropBox PrintArea: CropBox PageClip: CropBox PageLayout: SinglePage PageMode: UseOutlines Language: EN Outlines: Item: Title: Abstract Item: Title: INTRODUCTION Item: Title: MATERIALS AND METHODS Children: Item: Title: Subjects Item: Title: Mutational analysis Item: Title: Protein modeling Item: Title: Interferon score Item: Title: Interferon reporter assay Item: Title: RESULTS Children: Item: Title: Molecular data Item: Title: Clinical phenotype Item: Title: Interferon status Item: Title: Modeling of IFIH1 gain-of-function mutations Item: 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