Crigler-Najjar-Syndrom 2

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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.

Kadakol A et al. (2001) Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus.

Petit F et al. (2006) Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene.

Seppen J et al. (1994) Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.

Yamamoto K et al. (1998) Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.

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Labrune P et al. (1989) Crigler-Najjar type II disease inheritance: a family study.

Hunter JO et al. (1973) Inheritance of type 2 Crigler-Najjar hyperbilirubinaemia.

Powell LW et al. (1967) Idiopathic unconjugated hyperbilirubinemia (Gilbert's syndrome). A study of 42 families.

None (1967) Nonhemolytic unconjugated hyperbilirubinemia with hepatic glucuronyl transferase deficiency: a genetic study in four generations.

Güldütuna S et al. (1995) Crigler-Najjar syndrome type II. New observation of possible autosomal recessive inheritance.

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