| 1 | UGT1A1, CNS1
|
| Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.
|
| Petit FM, Gajdos V, Parisot F, Capel L, Aboura A, Lachaux A, Tachdjian G, Pous C, Labrune P.
|
| Eur J Hum Genet 13(3):278-82. 2005
|
| 2 | CNS1, UGT1A1
|
| A Novel Intronic Mutation Results in the Use of a Cryptic Splice Acceptor Site within the Coding Region of UGT1A1, Causing Crigler-Najjar Syndrome Type 1.
|
| Sappal BS, Ghosh SS, Shneider B, Kadakol A, Chowdhury JR, Chowdhury NR.
|
| Mol Genet Metab 75(2):134-42. 2002
|
| 3 | CNS1, UGT1A1
|
| Splice-site mutations : a novel genetic mechanism of Crigler-Najjar syndrome type 1.
|
| Gantla S, et al.
|
| Am J Hum Genet 62 : 585-592. 1998
|
| 4 | CNS1, UGT1A1
|
| Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease.
|
| Ciotti M, Chen F, Rubaltelli FF, Owens IS.
|
| Biochem Biophys Acta 1407 : 40-50. 1998
|
| 5 | CNS1, UGT1A1
|
| Neonatal hyperbilirubinemia and mutation of the bilirubin uridine diphosphate-glucuronosyltransferase gene : a common missense mutation among Japanese, Koreans and Chinese.
|
| Akaba K, et al.
|
| Biochem Mol Biol Int 46 : 21-26. 1998
|
| 6 | CNS1, UGT1A1
|
| Molecular analysis of patients of Sardinian descent with Crigler-Najjar syndrome type I.
|
| Rosatelli MC, et al.
|
| J Med Genet 34 : 122-125. 1997
|
| 7 | CNS1, UGT1A1
|
| Genetic heterogeneity of Crigler-Najjar syndrome type I : a study of 14 cases.
|
| Labrune P, et al.
|
| Hum Genet 94 : 693-697. 1994
|
| 8 | 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
|
| 9 | CNS1, UGT1A1
|
| A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.
|
| Ritter JK, et al.
|
| J Biol Chem 268 : 23573-23579. 1993
|
| 10 | CNS1, UGT1A1
|
| Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I : implication in carrier detection and prenatal diagnosis.
|
| Moghrabi N, et al.
|
| Am J Hum Genet 53 : 722-729. 1993
|