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Article

Novel large-scale deletion (whole exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome.

Drug metabolism and pharmacokinetics - 1 Jan 2009

Kanda Daisuke, Takagi Hitoshi, Kawahara Yasutsugu, Yata Yutaka, Takakusagi Tomofumi, Hatanaka Takeshi, Yoshinaga Teruo, Iesaki Keigo, Kashiwabara Kenji, Higuchi Tsugio, Mori Masatomo, Hirota Takeshi, Higuchi Shun, Ieiri Ichiro

Abstract excerpt

The Dubin-Johnson syndrome (DJS) is an inherited liver disorder characterized by conjugated hyperbilirubinemia and caused by ABCC2 gene mutations resulting in deficiency of multidrug resistance associated-protein 2 (MRP2) function. A 76-year-old woman with serious jaundice was referred to our hospital. She was clinically diagnosed with DJS with hepatic congestion, due to constrictive pericarditis. We analyzed all...

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Source

Identifiers

PMID: 19881259
DOI: 10.2133/dmpk.24.464

Genes

ABCC2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Novel large-scale deletion (whole exon 7) in the ABCC2 gene in a patient with the Dubin-Johnson syndrome.PMID 19881259Read ↗

Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome.Semantic proximity Read ↗

In silico screening and analysis of single-nucleotide polymorphic variants of the ABCC2 gene affecting Dubin-Johnson syndrome.Semantic proximity Read ↗

Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome.Semantic proximity Read ↗

[Clinical and molecular genetic analysis of nine patients with neonatal Dubin-Johnson syndrome].Semantic proximity Read ↗

A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in ChinaSemantic proximity Read ↗

[Genetic analysis of a case with Dubin-Johnson syndrome due to two novel variants of ABCC2 gene].Semantic proximity Read ↗

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

ABCC2 mutation spectrum and phenotypic diversity in pediatric Dubin-Johnson syndrome: a chinese cohort analysis.Semantic proximity Read ↗

Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome.Semantic proximity Read ↗

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Genetic contribution of ABCC2 to Dubin‐Johnson syndrome and inherited cholestatic disordersSemantic proximity Read ↗

Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome.Semantic proximity Read ↗

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