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Article

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 - 18 Mar 2020

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

Abstract excerpt

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 in China. Recently, we have...

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Identifiers

PMID: 32183854
DOI: 10.1186/s13023-020-1346-4
PMCID: PMC7079413

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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