A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome
特定的 IFIH1 功能获得性突变会导致辛格尔顿-默滕综合征。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2014.12.014
Rutsch, Frank; MacDougall, Mary; Lu, Changming; Buers, Insa; Mamaeva, Olga; Nitschke, Yvonne; Rice, Gillian I; Erlandsen, Heidi; Kehl, Hans Gerd; Thiele, Holger; Nürnberg, Peter; Höhne, Wolfgang; Crow, Yanick J; Feigenbaum, Annette; Hennekam, Raoul C