A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
导致 CYBC1 缺陷的纯合功能丧失突变会引起慢性肉芽肿病
期刊:Nature Communications
影响因子:14.7
doi:10.1038/s41467-018-06964-x
Gudny A Arnadottir, Gudmundur L Norddahl, Steinunn Gudmundsdottir, Arna B Agustsdottir, Snaevar Sigurdsson, Brynjar O Jensson, Kristbjorg Bjarnadottir, Fannar Theodors, Stefania Benonisdottir, Erna V Ivarsdottir, Asmundur Oddsson, Ragnar P Kristjansson, Gerald Sulem, Kristjan F Alexandersson, Thorhi