Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

作者：Jennifer L. Sloan, Jennifer J. Johnston, Irini Manoli, Randy J. Chandler, Caitlin Krause, Nuria Carrillo, Suma Chandrasekaran, Justin R. Sysol, Kevin O’Brien, Natalie Hauser, Julie C. Sapp, Heidi Dorward, Marjan Huizing, Bruce A. Barshop, Susan A. Berry, Philip James, Neena L. Champaigne, Pascale de Lonlay, Vassilli Valayannopoulos, Michael D. Geschwind, Dimitar K. Gavrilov, William L. Nyhan, Leslie G. Biesecker, Charles P. Venditti · 发表于：Nature Genetics · 年份：2011 · DOI：10.1038/ng.908 · 被引用次数：108 · 研究领域：RNA modifications and cancer、Metabolism and Genetic Disorders、RNA and protein synthesis mechanisms