A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism
- Submitting institution
-
University of St Andrews
- Unit of assessment
- 1 - Clinical Medicine
- Output identifier
- 260460254
- Type
- D - Journal article
- DOI
-
10.1096/fj.201802722R
- Title of journal
- FASEB Journal
- Article number
- -
- First page
- 11284
- Volume
- 33
- Issue
- 10
- ISSN
- 0892-6638
- Open access status
- Access exception
- Month of publication
- August
- Year of publication
- 2019
- 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
-
17
- Research group(s)
-
C - Cellular Medicine
- Citation count
- 4
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- -
- Author contribution statement
- The author made a substantial contribution to the conception and design of the study. They helped draft the output and critique the output for important intellectual content.
- Non-English
- No
- English abstract
- -
