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Article

A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndrome.

Hepatology (Baltimore, Md.) - 1 Jun 1997

Paulusma C C, Kool M, Bosma P J, Scheffer G L, ter Borg F, Scheper R J, Tytgat G N, Borst P, Baas F, Oude Elferink R P

Abstract excerpt

The human Dubin-Johnson syndrome (DJS) is a rare autosomal recessive liver disorder characterized by chronic conjugated hyperbilirubinemia. Patients have impaired hepatobiliary transport of non-bile salt organic anions. A highly similar phenotype has been described for a mutant Wistar rat strain,...

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Source

Identifiers

PMID: 9185779
DOI: 10.1002/hep.510250635

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-9185779-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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A mutation in the human canalicular multispecific organic anion transporter gene causes the Dubin-Johnson syndrome.PMID 9185779Read ↗

Congenital jaundice in rats with a mutation in a multidrug resistance-associated protein gene.Semantic proximity Read ↗

A Splice Mutation in the Human Canalicular Multispecific Organic Anion Transporter Gene Causes Dubin-Johnson SyndromeSemantic proximity Read ↗

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 ↗

Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndromeSemantic proximity Read ↗

[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 ↗

Dubin-Johnson syndrome coinciding with colon cancer and atherosclerosis.Semantic proximity Read ↗

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

Concurrence of novel mutations causing Gilbert's and Dubin-Johnson syndrome with poor clinical outcomes in a Han Chinese family.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 ↗

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

Rapid in vivo evaluation system for cholestasis-related genes in mice with humanized bile acid profiles.Semantic proximity Read ↗

Dual Hereditary Jaundice: Simultaneous Occurrence of Mutations Causing Gilbert’s and Dubin-Johnson SyndromeSemantic proximity Read ↗

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