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A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
| Publication available at: | http://www.bloodjournal.org/content/early/2016/02/24/blood-2015-10-675629.full.pdf |
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| Title: | A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss |
| Authors: | Stritt, S Nurden, P Turro, E Greene, D Jansen, SB Westbury, SK Petersen, R Astle, WJ Marlin, S Bariana, TK Kostadima, M Lentaigne, C Maiwald, S Papadia, S Kelly, AM Stephens, JC Penkett, CJ Ashford, S Tuna, S Austin, S Bakchoul, T Collins, P Favier, R Lambert, MP Mathias, M Millar, CM Mapeta, R Perry, DJ Schulman, S Simeoni, I Thys, C BRIDGE-BPD Consortium Gomez, K Erber, WN Stirrups, K Rendon, A Bradley, JR Van Geet, C Raymond, FL Laffan, MA Nurden, AT Nieswandt, B Richardson, S Freson, K Ouwehand, WH Mumford, AD |
| Item Type: | Journal Article |
| Issue Date: | 9-Jun-2016 |
| Date of Acceptance: | 16-Jan-2016 |
| URI: | http://hdl.handle.net/10044/1/36625 |
| DOI: | https://dx.doi.org/10.1182/blood-2015-10-675629 |
| ISSN: | 0006-4971 |
| Publisher: | American Society of Hematology |
| Start Page: | 2903 |
| End Page: | 2914 |
| Journal / Book Title: | Blood |
| Volume: | 127 |
| Issue: | 23 |
| Copyright Statement: | © 2016 by The American Society of Hematology |
| Sponsor/Funder: | Medical Research Council (MRC) Medical Research Council |
| Funder's Grant Number: | MR/J011711/1 |
| Keywords: | BRIDGE-BPD Consortium Immunology Cardiovascular Medicine And Haematology Clinical Sciences Paediatrics And Reproductive Medicine |
| Publication Status: | Published |
| Open Access location: | http://www.bloodjournal.org/content/early/2016/02/24/blood-2015-10-675629.full.pdf |
| Appears in Collections: | Department of Medicine (up to 2019) |