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A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss

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
Epidemiology, Public Health and Primary Care



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