Recurrent SLCO1B1 and SLCO1B3 mutations identified in three patients with Rotor syndrome
This study established a genetic diagnosis for the three patients and contributed to finding hotspot mutations in Rotor syndrome.
Authors
- Chenyu Zhao (ORCID: https://orcid.org/0000-0002-0306-4400)
- Hui Huang (ORCID: https://orcid.org/0000-0002-4175-3979)
Institutions
- Central South University (CN)
- Zhengzhou University (CN)
- Henan Provincial People's Hospital (CN)
- Second Xiangya Hospital of Central South University (CN)
Publication Details
- Journal
- Frontiers in Medicine
- Published
- 2025-08-18
- DOI
- https://doi.org/10.3389/fmed.2025.1630360
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 0.00