Crigler-Najjar syndrome 2 is an autosomal recessive disorder caused by mutations of the UGT1A1-Gene. Because of some residual enzyme function the clinical presentation is milder than in type 1.
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Moghrabi N et al. (1993) Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2. |
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Petit F et al. (2006) Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene. |
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Seppen J et al. (1994) Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase. |
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Labrune P et al. (1989) Crigler-Najjar type II disease inheritance: a family study. |
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Hunter JO et al. (1973) Inheritance of type 2 Crigler-Najjar hyperbilirubinaemia. |
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Powell LW et al. (1967) Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families. |
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None (1967) Nonhemolytic unconjugated hyperbilirubinemia with hepatic glucuronyl transferase deficiency: a genetic study in four generations. |
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OMIM.ORG article Omim 606785 |