A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss
- Submitting institution
-
University of Bristol
- Unit of assessment
- 1 - Clinical Medicine
- Output identifier
- 96075820
- Type
- D - Journal article
- DOI
-
10.1182/blood-2015-10-675629
- Title of journal
- Blood
- Article number
- -
- First page
- 2903
- Volume
- 127
- Issue
- 23
- ISSN
- 0006-4971
- Open access status
- Out of scope for open access requirements
- Month of publication
- February
- Year of publication
- 2016
- URL
-
-
- Supplementary information
-
-
- Request cross-referral to
- -
- Output has been delayed by COVID-19
- No
- COVID-19 affected output statement
- -
- Forensic science
- No
- Criminology
- No
- Interdisciplinary
- No
- Number of additional authors
-
45
- Research group(s)
-
A - Cardiovascular Science
- Citation count
- 68
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- -
- Author contribution statement
- a. The author made a substantial contribution to the conception and design of the study; to the organisation of the conduct of the study; to carrying out the study; to analysis and interpretation of study data.
b. The author helped draft the output and critiqued the output for important intellectual content.
- Non-English
- No
- English abstract
- -