Case report: multiple UGT1A1 gene variants in a patient with Crigler-Najjar syndrome
Abstract Background Inherited unconjugated hyperbilirubinemia is caused by variants in the gene UGT1A1 leading to Gilbert's syndrome and Crigler-Najjar syndrome types I and II. These syndromes are differentiated on the basis of UGT1A1 residual enzymatic activity and its affected bilirubin level...
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| Main Authors: | , , , , |
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| Format: | Book |
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BMC,
2018-10-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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