A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
- Resource Type
- Article
- Authors
- Stritt, Simon ; Nurden, Paquita ; Turro, Ernest ; Greene, Daniel; Jansen, Sjoert B.; Westbury, Sarah K.; Petersen, Romina; Astle, William J.; Marlin, Sandrine; Bariana, Tadbir K.; Kostadima, Myrto; Lentaigne, Claire; Maiwald, Stephanie; Papadia, Sofia; Kelly, Anne M.; Stephens, Jonathan C.; Penkett, Christopher J.; Ashford, Sofie; Tuna, Salih; Austin, Steve; Bakchoul, Tamam; Collins, Peter; Favier, Rémi; Lambert, Michele P.; Mathias, Mary; Millar, Carolyn M.; Mapeta, Rutendo; Perry, David J.; Schulman, Sol; Simeoni, Ilenia; Thys, Chantal; Gomez, Keith; Erber, Wendy N.; Stirrups, Kathleen; Rendon, Augusto; Bradley, John R.; van Geet, Chris; Raymond, F.Lucy; Laffan, Michael A.; Nurden, Alan T.; Nieswandt, Bernhard; Richardson, Sylvia; Freson, Kathleen; Ouwehand, Willem H.; Mumford, Andrew D.
- Source
- In Blood 9 June 2016 127(23):2903-2914
- Subject
- Language
- ISSN
- 0006-4971