A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
Science Translational Medicine
Turro, Ernest E; Greene, Daniel D; Wijgaerts, Anouck A; Thys, Chantal C; Lentaigne, Claire C; Bariana, Tadbir K TK; Westbury, Sarah K SK; Kelly, Anne M AM; Selleslag, Dominik D; Stephens, Jonathan C JC; Papadia, Sofia S; Simeoni, Ilenia I; Penkett, Christopher J CJ; Ashford, Sofie S; Attwood, Antony A; Austin, Steve S; Bakchoul, Tamam T; Collins, Peter P; Deevi, Sri V V SV; Favier, Rémi R; Kostadima, Myrto M; Lambert, Michele P MP; Mathias, Mary M; Millar, Carolyn M CM; Peerlinck, Kathelijne K; Perry, David J DJ; Schulman, Sol S; Whitehorn, Deborah D; Wittevrongel, Christine C; , ; De Maeyer, Marc M; Rendon, Augusto A; Gomez, Keith K; Erber, Wendy N WN; Mumford, Andrew D AD; Nurden, Paquita P; Stirrups, Kathleen K; Bradley, John R JR; Raymond, F Lucy FL; Laffan, Michael A MA; Van Geet, Chris C; Richardson, Sylvia S; Freson, Kathleen K; Ouwehand, Willem H WH