Recurrent SLCO1B1 and SLCO1B3 mutations identified in three patients with Rotor syndrome
BackgroundRotor syndrome is a rare genetic disease inherited in an autosomal digenic recessive manner. It is caused by pathogenic mutations in both SLCO1B1 and SLCO1B3 genes, and characterized by predominantly conjugated hyperbilirubinemia.MethodsThree Chinese patients clinically diagnosed with Roto...
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| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2025-08-01
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| Series: | Frontiers in Medicine |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fmed.2025.1630360/full |
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