Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Rotor type hyperbilirubinemia is an autosomal recessive digenic disorder caused by mutations of the hepatic anion transporters SLCO1B1 and SLCO1B3.
| 1. |
van de Steeg E et al. (2012) Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. 
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| 2. |
Wolkoff AW et al. (1976) Rotor's syndrome. A distinct inheritable pathophysiologic entity.
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| 3. |
Wolpert E et al. (1977) Abnormal sulfobromophthalein metabolism in Rotor's syndrome and obligate heterozygotes.
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| 4. |
Dollinger MR et al. (1967) Chronic familial hyperbilirubinemia. Hepatic defect(s) associated with occult hemolysis.
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| 5. |
SCHIFF L et al. (1959) Familial nonhemolytic jaundice with conjugated bilirubin in the serum; a case study.
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| 6. |
OMIM.ORG article Omim 237450
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