Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders
GRIK2红藻氨酸受体亚基基因的聚集性突变是多种神经发育障碍的病因。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2021.07.007
Jacob R Stolz ,Kendall M Foote ,Hermine E Veenstra-Knol ,Rolph Pfundt ,Sanne W Ten Broeke ,Nicole de Leeuw ,Laura Roht ,Sander Pajusalu ,Reelika Part ,Ionella Rebane ,Katrin Õunap ,Zornitza Stark ,Edwin P Kirk ,John A Lawson ,Sebastian Lunke ,John Christodoulou ,Raymond J Louie ,R Curtis Rogers ,Jessica M Davis ,A Micheil Innes ,Xing-Chang Wei ,Boris Keren ,Cyril Mignot ,Robert Roger Lebel ,Steven M Sperber ,Ai Sakonju ,Nienke Dosa ,Daniela Q C M Barge-Schaapveld ,Cacha M P C D Peeters-Scholte ,Claudia A L Ruivenkamp ,Bregje W van Bon ,Joanna Kennedy ,Karen J Low ,Sian Ellard ,Lewis Pang ,Joseph J Junewick ,Paul R Mark ,Gemma L Carvill ,Geoffrey T Swanson