| 1 | CNS2, UGT1A1
|
| Crigler-Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene.
|
| Petit F, Gajdos V, Capel L, Parisot F, Myara A, Francoual J, Labrune P.
|
| Clin Genet 69(6):525-7. No abstract available. 2006
|
| 2 | CNS2, UGT1A1
|
| Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene.
|
| Iolascon A, Meloni A, Coppola B, Rosatelli MC.
|
| J Med Genet 37(9):712-3. No abstract available. 2000
|
| 3 | CNS2, GBTS, UGT1A1
|
| Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II.
|
| Yamamoto K, Sato H, Fujiyama Y, Doida Y, Bamba T.
|
| Biochim Biophys Acta 1406 : 267-273. 1998
|
| 4 | CNS2, UGT1A1
|
| Crigler-Najjar syndrome type II is inherited both as a dominant and as a recessive trait.
|
| Koiwai O, et al.
|
| Hum Mol Genet 5 : 645-647. 1996
|
| 5 | CNS2, UGT1A1
|
| A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II.
|
| Seppen J, et al.
|
| FEBS Lett 390 : 294-298. 1996
|
| 6 | CNS2
|
| Crigler-Najjar syndrome type II. New observation of possible autosomal recessive inheritance.
|
| Guldutuna S, Langenbeck U, Bock KW, Sieg A, Leuschner U.
|
| Dig Dis Sci 40(1):28-32. 1995
|
| 7 | CNS1, CNS2, UGT1A1
|
| Discrimination between Crigler-Najjar type I and II by expression of mutant bilirubin uridine diphosphate-glucuronosyltransferase.
|
| Seppen J, et al.
|
| J Clin Invest 94 : 2385-2391. 1994
|
| 8 | CNS2, UGT1A1
|
| Identification of defect in the genes for bilirubin UDP-glucuronosyl-transferase in a patient with Crigler-Najjar syndrome type II.
|
| Aono S, et al.
|
| Biochem Biophys Res Commun 197 : 1239-1244. 1993
|
| 9 | CNS2, UGT1A1
|
| Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.
|
| Moghrabi N, Clarke DJ, Boxer M, Burchell B.
|
| Genomics 18(1):171-3. No abstract available. 1993
|