Associated Papers
A novel pathogenic variant for dubin-johnson syndrome in a case of hyperbilirubinemia and metabolic associated fatty liver disease.
Urbani G et al.
Scandinavian Journal of Gastroenterology, 2026
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.
Real-life Progression of the Use of a Genetic Panel in to Diagnose Neonatal Cholestasis.
Ito S et al.
Jpgn Reports, 2022
Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome.
Kim KY et al.
Bmc Pediatrics, 2020
A recurrent ABCC2 p.G693R mutation resulting in loss of function of MRP2 and hyperbilirubinemia in Dubin-Johnson syndrome in China.
Wu L et al.
Orphanet Journal of Rare Diseases, 2020
32183854 (PubMed )
Supplement: 13023_2020_1346_MOESM1_ESM.docx
Clinical, Pathologic, and Genetic Features of Neonatal Dubin-Johnson Syndrome: A Multicenter Study in Japan.
Togawa T et al.
The Journal of Pediatrics, 2018
Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.
Togawa T et al.
The Journal of Pediatrics, 2016
Mutation and functional analysis of ABCC2/multidrug resistance protein 2 in a Japanese patient with Dubin-Johnson syndrome.
Uchiumi T et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2013
Mutational analysis of ABCC2 gene in two siblings with neonatal-onset Dubin Johnson syndrome.
Pacifico L et al.
Clinical Genetics, 2010
Identification of a novel 974C-->G nonsense mutation of the MRP2/ABCC2 gene in a patient with Dubin-Johnson syndrome and analysis of the effects of rifampicin and ursodeoxycholic acid on serum bilirubin and bile acids.
Corpechot C et al.
The American Journal of Gastroenterology, 2006
Single nucleotide polymorphisms in ABCC2 and ABCB1 genes and their clinical impact in physiology and drug response.
Wada M
Cancer Letters, 2006
Dual hereditary jaundice: simultaneous occurrence of mutations causing Gilbert's and Dubin-Johnson syndrome.
Cebecauerova D et al.
Gastroenterology, 2005
Mutational analysis of the MRP2 gene and long-term follow-up of Dubin-Johnson syndrome in Japan.
Machida I et al.
Journal of Gastroenterology, 2005
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