Abstract
Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia and caused by mutations of the ATP-binding cassette (ABC) transporter encoding gene MRP2/cMOAT/ABCC2. Previous studies reported on mutations in DJS patients and polymorphisms in healthy human individuals. The genomic DNA sequence of a female Caucasian DJS patient was analyzed by DNA sequencing and revealed the identification of a homozygous missense mutation C2302T. This DJS-causing alteration results in an amino acid exchange Arg768Trp.
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Acknowledgements
This work was supported by grants LA1039/1-3 and LA1039/2-1 of the Deutsche Forschungsgemeinschaft (DFG). The authors thank Dr. Christiane Otto (Berlin) for her support and for providing clinical data.
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Materna, V., Lage, H. Homozygous mutation Arg768Trp in the ABC-transporter encoding gene MRP2/cMOAT/ABCC2 causes Dubin-Johnson syndrome in a Caucasian patient. J Hum Genet 48, 484–486 (2003). https://doi.org/10.1007/s10038-003-0057-8
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DOI: https://doi.org/10.1007/s10038-003-0057-8
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