A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China | Orphanet Journal of Rare Diseases | Full Text

A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China | Orphanet Journal of Rare Diseases | Full Text

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

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 cas...

Authors:Lina Wu, Yanmeng Li, Yi Song, Donghu Zhou, Siyu Jia, Anjian Xu, Wei Zhang, Hong You, Jidong Jia, Jian Huang and Xiaojuan Ou

Citation:Orphanet Journal of Rare Diseases 2020 15:74

Content type:Research

Published on: 18 March 2020

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