In-depth analysis of OTC A208T case induced by OTC gene mutation and research on the prediction and simulation of the impact on protein function
This study deepens our understanding of the clinical manifestations and characteristics of OTCD, especially the <i>OTC</i> A208T gene mutation site. Given the lack of specific clinical manifestations in OTCD patients, early and accurate diagnosis is crucial for effective treatment and prognosis improvement. To our knowledge, this is the first case of this mutation site reported in China.
Authors
- Xuejiao Hu (ORCID: https://orcid.org/0000-0003-1471-1658)
- Tianyi Liu (ORCID: https://orcid.org/0000-0003-3622-3604)
- Wenxin Yan (ORCID: https://orcid.org/0000-0003-2725-9840)
- Zhong Li (ORCID: https://orcid.org/0000-0003-2389-1443)
- Haiming Chen
- Qingyang Hu (ORCID: https://orcid.org/0009-0006-4830-2368)
- Xue Dong (ORCID: https://orcid.org/0000-0002-1417-6758)
Institutions
- Dalian Medical University (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2024-09-12
- DOI
- https://doi.org/10.3389/fped.2024.1450859
- Citations
- 2
- Primary Topic
- Ubiquitin and proteasome pathways
- Type
- article
- Field-Weighted Citation Impact
- 0.47
Funders
- Dalian Science and Technology Innovation Fund