Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect
- Submitting institution
-
University of Sussex
- Unit of assessment
- 5 - Biological Sciences
- Output identifier
- 19651_67438
- Type
- D - Journal article
- DOI
-
10.1073/pnas.1519444113
- Title of journal
- Proceedings of the National Academy of Sciences
- Article number
- -
- First page
- E1236
- Volume
- 113
- Issue
- 9
- ISSN
- 1091-6490
- Open access status
- Out of scope for open access requirements
- Month of publication
- February
- Year of publication
- 2016
- URL
-
http://dx.doi.org/10.1073/pnas.1519444113
- 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
-
24
- Research group(s)
-
-
- Citation count
- 79
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- -
- Author contribution statement
- Alan Lehmann designed, performed the research and wrote the manuscript. He also contributed new reagents/analytic tool for this study.
All the cell biology and some of the molecular analysis was done in Professor's Lehmanns lab. Interpretation of the clinical features of patients in relationship to their mutations was done by him and he is also joint senior author in this manuscript.
- Non-English
- No
- English abstract
- -
