A recurrent ABCC2 c.2439 + 5G > A variant disturbs mRNA splicing and causes Dubin-Johnson syndrome
Abstract Background Hyperbilirubinemia is the main clinical manifestation of Dubin-Johnson syndrome (DJS), of which most cases can be attributed to the variants in the ABCC2 gene. This study aimed to characterize the mechanism of a splicing variant of the ABCC2 gene and interrogate the variant patho...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-07-01
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| Series: | BMC Medical Genomics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12920-025-02187-4 |
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