Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice
SMG9基因的突变（该基因编码无义介导衰变机制的关键组成部分）会导致人类和小鼠出现多发性先天性异常综合征。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.02.010
Ranad Shaheen ,Shams Anazi ,Tawfeg Ben-Omran ,Mohammed Zain Seidahmed ,L Brianna Caddle ,Kristina Palmer ,Rehab Ali ,Tarfa Alshidi ,Samya Hagos ,Leslie Goodwin ,Mais Hashem ,Salma M Wakil ,Mohamed Abouelhoda ,Dilek Colak ,Stephen A Murray ,Fowzan S Alkuraya
