| 1 | GBTS, UGT1A1
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| Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome.
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| Maruo Y, D Addario C, Mori A, Iwai M, Takahashi H, Sato H, Takeuchi Y.
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| Hum Genet 115(6):525-6. Epub 2004 Nov. 2004
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| 2 | GBTS, UGT1A1
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| Frequencies of UDP-glucuronosyltransferase 1 (UGT1A1) gene promoter polymorphisms among distinct ethnic groups from Brazil.
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| Fertrin KY, Goncalves MS, Saad ST, Costa FF.
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| Am J Med Genet 108(2):117-9. 2002
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| 3 | UGT1A1, GBTS
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| Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia.
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| Sugatani J, Yamakawa K, Yoshinari K, Machida T, Takagi H, Mori M, Kakizaki S, Sueyoshi T, Negishi M, Miwa M.
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| Biochem Biophys Res Commun 292(2):492-7. 2002
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| 4 | GBTS, UGT1A1
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| 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.
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| Kadakol A, Sappal BS, Ghosh SS, Lowenheim M, chowdhury A, Chowdhury S, Santra A, Arias IM, Chowdhury JR, Chowdhury NR.
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| J Med Genet 38 : 244-249. 2001
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| 5 | GBTS, UGT1A1
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| Prolonged unconjugated hyperbilirubinemia associated with breast milk and mutations of the bilirubin uridine diphosphate- glucuronosyltransferase gene.
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| Maruo Y, Nishizawa K, Sato H, Sawa H, Shimada M.
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| Pediatrics 106(5):E59. 2000
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| 6 | GBTS, UGT1A1
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| (TA)8 allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome.
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| Iolascon A, et al.
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| Haematologica 84(2):106-9. 1999
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| 7 | GBTS, UGT1A1
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| Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene.
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| Maruo Y, et al.
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| J Pediatr 132 : 1045-1047. 1998
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| 8 | CNS2, GBTS, UGT1A1
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| 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.
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| Yamamoto K, Sato H, Fujiyama Y, Doida Y, Bamba T.
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| Biochim Biophys Acta 1406 : 267-273. 1998
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| 9 | G6PD, G6PDD, GBTS, UGT1A1
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| Gilbert syndrome and glucose-6-phosphate dehydrogenase deficiency: a dose-dependent genetic interaction crucial to neonatal hyperbilirubinemia.
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| Kaplan M, Renbaum P, Levy-Lahad E, Hammerman C, Lahad A, Beutler E.
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| Proc Natl Acad Sci U S A 94(22):12128-32. 1997
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| 10 | GBTS, UGT1A1
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| Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert's syndrome.
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| Monaghan G, et al.
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| Lancet 347 : 578-581. 1996
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| 11 | GBTS, UGT1A1
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| Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase.
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| Koiwai O, et al.
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| Hum Mol Genet 4 : 1183-1186. 1995
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| 12 | GBTS, UGT1A1
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| The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert's syndrome.
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| Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, Lindhout D, Tytgat GN, Jansen PL, Oude Elferink RP, et al.
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| N Engl J Med 333(18):1171-5. 1995
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