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Volumn 132, Issue 6, 1998, Pages 1045-1047

Gilbert syndrome caused by a homozygous missense mutation (Tyr486Asp) of bilirubin UDP-glucuronosyltransferase gene

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; GLUCURONOSYLTRANSFERASE;

EID: 0031813575     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(98)70408-1     Document Type: Article
Times cited : (53)

References (11)
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  • 2
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    • Identification of defect in the genes for bilirubin UDP-glucuronosyl transferase in a patient with Crigler-Najjar syndrome type II
    • S Aono Y Yamada H Keino N Hanada T Nakagawa Y Sasaoka Identification of defect in the genes for bilirubin UDP-glucuronosyl transferase in a patient with Crigler-Najjar syndrome type II Biochem Biophys Res Commun 197 1993 1239 1244
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  • 3
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    • Sequence of exons and the flanking regions of human bilirubin UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I
    • PJ Bosma NR Chowdhury BG Goldhoorn MH Hofker RPJ Oude Elferink PLM Jansen Sequence of exons and the flanking regions of human bilirubin UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome, type I Hepatology 15 1992 941 947
    • (1992) Hepatology , vol.15 , pp. 941-947
    • Bosma, PJ1    Chowdhury, NR2    Goldhoorn, BG3    Hofker, MH4    Oude Elferink, RPJ5    Jansen, PLM6
  • 4
    • 0030030762 scopus 로고    scopus 로고
    • Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert’s syndrome
    • G Monaghan M Ryan R Seddon R Hume B Burchell Genetic variation in bilirubin UDP-glucuronosyltransferase gene promoter and Gilbert’s syndrome Lancet 347 1996 578 581
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  • 5
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    • Molecular analysis of the five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency
    • Y Yamada H Goto K Suzumori R Adachi N Ogasawara Molecular analysis of the five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency Hum Genet 90 1992 379 384
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    • Yamada, Y1    Goto, H2    Suzumori, K3    Adachi, R4    Ogasawara, N5
  • 6
    • 0000738485 scopus 로고
    • Plasma bilirubin determination in the newborn infant. A methodological study with special reference to the influence of hemolysis
    • M Michaëlson B Nosslin S Sjolin Plasma bilirubin determination in the newborn infant. A methodological study with special reference to the influence of hemolysis Pediatrics 35 1965 925 931
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    • Yamamoto K, Soeda Y, Kamisako T, Hosaka H, Fukano M, Sato H, et al. Mutation analysis of seven patients with Crigler-Najjar syndrome type II. J Human Genet (in press).
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    • Gilbert’s syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase
    • O Koiwai M Nishizawa K Hasada S Aono Y Adachi N Mamiya Gilbert’s syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase Hum Mol Genet 4 1995 1183 1186
    • (1995) Hum Mol Genet , vol.4 , pp. 1183-1186
    • Koiwai, O1    Nishizawa, M2    Hasada, K3    Aono, S4    Adachi, Y5    Mamiya, N6
  • 9
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.