Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease
- Submitting institution
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University of Sussex
- Unit of assessment
- 5 - Biological Sciences
- Output identifier
- 1909_60994
- Type
- D - Journal article
- DOI
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10.1172/JCI82890
- Title of journal
- Journal of Clinical Investigation
- Article number
- -
- First page
- 2881
- Volume
- 126
- Issue
- 8
- ISSN
- 0021-9738
- Open access status
- Compliant
- Month of publication
- August
- Year of publication
- 2016
- URL
-
https://doi.org/10.1172/JCI82890
- 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
-
29
- Research group(s)
-
-
- Citation count
- 35
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- -
- Author contribution statement
- Johanne Murray (corresponding author) conceived the study and wrote the manuscript. Johanne Murray's laboratory performed and coordinated most of the experiments. In particular they generated the data in 2 out of the 3 figures, specifically in figure 2 the effect of NSMCE3 mutations on stability of the SMC5/6 complex, everything except c. the yeast two hybrid and all data in figure 3 Analysis of the cellular defects.
- Non-English
- No
- English abstract
- -