Crigler-Najjar syndrome 2 is an autosomal recessive disorder caused by mutations of the UGT1A1-Gene. Because of no residual enzyme function the clinical presentation is more severe than in type 2.
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14. |
Iyanagi T et al. (1989) The 3-methylcholanthrene-inducible UDP-glucuronosyltransferase deficiency in the hyperbilirubinemic rat (Gunn rat) is caused by a -1 frameshift mutation. |
15. |
Nazer H et al. (1990) Concurrence of Robinow syndrome and Crigler-Najar syndrome in two offspring of first cousins. |
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van Es HH et al. (1990) Immunochemical analysis of uridine diphosphate-glucuronosyltransferase in four patients with the Crigler-Najjar syndrome type I. |
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18. |
None (1991) Molecular basis of multiple UDP-glucuronosyltransferase isoenzyme deficiencies in the hyperbilirubinemic rat (Gunn rat). |
19. |
Galbraith RA et al. (1992) Suppression of bilirubin production in the Crigler-Najjar type I syndrome: studies with the heme oxygenase inhibitor tin-mesoporphyrin. |
21. |
SZABO L et al. (1963) STUDIES ON THE INHERITANCE OF CRIGLER--NAJJAR'S SYNDROME BY THE MENTHOL TEST. |
22. |
CHILDS B et al. (1959) Glucuronic acid conjugation by patients with familial nonhemolytic jaundice and their relatives. |
23. |
CRIGLER JF et al. (1952) Congenital familial nonhemolytic jaundice with kernicterus. |
24. |
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. |
25. |
Gollan JL et al. (1975) Prolonged survival in three brothers with severe type 2 Crigler-Najjar syndrome. Ultrastructural and metabolic studies. |
26. |
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27. |
OMIM.ORG article Omim 218800 |