Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
IFIH1 的功能获得性突变可导致一系列与 I 型干扰素信号上调相关的人类疾病表型
期刊:Nature Genetics
影响因子:31.7
doi:10.1038/ng.2933
Gillian I Rice #, Yoandris Del Toro Duany #, Emma M Jenkinson, Gabriella Ma Forte, Beverley H Anderson, Giada Ariaudo, Brigitte Bader-Meunier, Eileen M Baildam, Roberta Battini, Michael W Beresford, Manuela Casarano, Mondher Chouchane, Rolando Cimaz, Abigail E Collins, Nuno Jv Cordeiro, Russell C Da