Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome
- Submitting institution
-
The University of Huddersfield
- Unit of assessment
- 5 - Biological Sciences
- Output identifier
- 48
- Type
- D - Journal article
- DOI
-
10.1182/blood-2015-09-671636
- Title of journal
- Blood
- Article number
- -
- First page
- 997
- Volume
- 127
- Issue
- 8
- ISSN
- 0006-4971
- Open access status
- Out of scope for open access requirements
- Month of publication
- January
- 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
-
20
- Research group(s)
-
-
- Citation count
- 70
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- -
- Author contribution statement
- Dr Hennies was co-corresponding author on this paper. he made a substantial contribution to the conception and design of the study and edited/critiqued the output to ensure appropriate intellectual content.
- Non-English
- No
- English abstract
- -
