Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder
脱氧羟丁酸合酶（一种参与羟丁酸合成的酶）的隐性稀有变异与神经发育障碍有关
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.12.017
Mythily Ganapathi, Leah R Padgett, Kentaro Yamada, Orrin Devinsky, Rebecca Willaert, Richard Person, Ping-Yee Billie Au, Julia Tagoe, Marie McDonald, Danielle Karlowicz, Barry Wolf, Joanna Lee, Yufeng Shen, Volkan Okur, Liyong Deng, Charles A LeDuc, Jiayao Wang, Ashleigh Hanner, Raghavendra G Mirmir
