Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome

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

期刊名称The American Journal of Human Genetics
作者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
卷第96卷
期第2期
印刷ISSN0002-9297
文件大小1727.78KB
发表时间2015-02
DOI10.1016/j.ajhg.2014.11.019
页码266-274

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Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome