Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures
激活信号整合因子1复合物亚基的突变与产前脊髓性肌萎缩症和先天性骨折有关
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2016.01.006
Knierim, Ellen; Hirata, Hiromi; Wolf, Nicole I; Morales-Gonzalez, Susanne; Schottmann, Gudrun; Tanaka, Yu; Rudnik-Schöneborn, Sabine; Orgeur, Mickael; Zerres, Klaus; Vogt, Stefanie; van Riesen, Anne; Gill, Esther; Seifert, Franziska; Zwirner, Angelika; Kirschner, Janbernd; Goebel, Hans Hilmar; Hübner, Christoph; Stricker, Sigmar; Meierhofer, David; Stenzel, Werner; Schuelke, Markus