Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome
编码RIG-I的DDX58基因突变会导致非典型辛格尔顿-默滕综合征。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2014.11.019
Jang, Mi-Ae; Kim, Eun Kyoung; Now, Hesung; Nguyen, Nhung T H; Kim, Woo-Jong; Yoo, Joo-Yeon; Lee, Jinhyuk; Jeong, Yun-Mi; Kim, Cheol-Hee; Kim, Ok-Hwa; Sohn, Seongsoo; Nam, Seong-Hyeuk; Hong, Yoojin; Lee, Yong Seok; Chang, Sung-A; Jang, Shin Yi; Kim, Jong-Won; Lee, Myung-Shik; Lim, So Young; Sung, Ki-Sun; Park, Ki-Tae; Kim, Byoung Joon; Lee, Joo-Heung; Kim, Duk-Kyung; Kee, Changwon; Ki, Chang-Seok