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

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

Abstract 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 resist...

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Bibliographic Details
Main Authors: Lina Wu, Yanmeng Li, Yi Song, Donghu Zhou, Siyu Jia, Anjian Xu, Wei Zhang, Hong You, Jidong Jia, Jian Huang, Xiaojuan Ou
Format: Article
Language:English
Published: BMC 2020-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Dubin-Johnson syndrome
Adenosine triphosphate-binding cassette subfamily C member 2
Multidrug resistance-associated protein 2
Missense mutation
Biological function
Online Access:http://link.springer.com/article/10.1186/s13023-020-1346-4

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