Article

A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China

2020-02-18

Abstract excerpt

<title>Abstract</title> <p>Background: Dubin-Johnson syndrome (DJS) is a rare autosomal recessive disorder characterized by predominantly conjugated hyperbilirubinemia that is caused by pathogenic mutations in the adenosine triphosphate-binding cassette subfamily C member 2 ( ABCC2 ) gene, which encodes multidrug resistance-associated protein 2 (MRP2). However, little is known about the causative mutation of DJS...

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Literature Corpus work: 1f56aa95-0fed-589f-a527-ddc03280dfa1
DOI: 10.21203/rs.2.17212/v2

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