De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder
DHX30基因的新生错义突变会损害整体翻译并导致神经发育障碍
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.12.016
Lessel, Davor; Schob, Claudia; Küry, Sébastien; Reijnders, Margot R F; Harel, Tamar; Eldomery, Mohammad K; Coban-Akdemir, Zeynep; Denecke, Jonas; Edvardson, Shimon; Colin, Estelle; Stegmann, Alexander P A; Gerkes, Erica H; Tessarech, Marine; Bonneau, Dominique; Barth, Magalie; Besnard, Thomas; Cogné, Benjamin; Revah-Politi, Anya; Strom, Tim M; Rosenfeld, Jill A; Yang, Yaping; Posey, Jennifer E; Immken, LaDonna; Oundjian, Nelly; Helbig, Katherine L; Meeks, Naomi; Zegar, Kelsey; Morton, Jenny; The Ddd Study; Schieving, Jolanda H; Claasen, Ana; Huentelman, Matthew; Narayanan, Vinodh; Ramsey, Keri; Brunner, Han G; Elpeleg, Orly; Mercier, Sandra; Bézieau, Stéphane; Kubisch, Christian; Kleefstra, Tjitske; Kindler, Stefan; Lupski, James R; Kreienkamp, Hans-Jürgen