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

@article{Toh1999GenomicSO,
  title={Genomic structure of the canalicular multispecific organic anion-transporter gene (MRP2/cMOAT) and mutations in the ATP-binding-cassette region in Dubin-Johnson syndrome.},
  author={Satoshi Toh and M. Wada and Takeshi Uchiumi and Akihiko Inokuchi and Yoshihide Makino and Yutaka Horie and Yukihiko Adachi and Shotaro Sakisaka and Masayoshi Kuwano},
  journal={American journal of human genetics},
  year={1999},
  volume={64 3},
  pages={739-46}
}
Dubin-Johnson syndrome (DJS) is an autosomal recessive disease characterized by conjugated hyperbilirubinemia. Previous studies of the defects in the human canalicular multispecific organic anion transporter gene (MRP2/cMOAT) in patients with DJS have suggested that the gene defects are responsible for DJS. In this study, we determined the exon/intron structure of the human MRP2/cMOAT gene and further characterized mutations in patients with DJS. The human MRP2/cMOAT gene contains 32 exons, and… CONTINUE READING

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