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Gain-of-Function Mutations in IFIH1 Cause a Spectrum of Human Disease Phenotype...
Rice, G; Toro Duany, Y; Jenkinson, E; Forte, G; Anderson, B; Ariaudo, G; Bader-Meunier, B; Baildam, E; Battini, R; Beresford, M; Casarano, MThe type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome, and of other patients with undefined neurological and immunological phenotypes also demo...
Data: 2014
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Origem: Repositório do Centro Hospitalar de Lisboa Central, EPE