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Volumn 6, Issue 3, 2012, Pages 667-669

Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient

Author keywords

Bilirubin UDP glucuronosyltransferase gene; Compound heterozygous; Crigler Najjar syndrome; Hyperbilirubinemia; Synonymous mutation

Indexed keywords

BILIRUBIN; GLUCURONOSYLTRANSFERASE 1A1; PHENOBARBITAL;

EID: 84865200104     PISSN: 17912997     EISSN: 17913004     Source Type: Journal    
DOI: 10.3892/mmr.2012.950     Document Type: Article
Times cited : (6)

References (9)
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    • Crigler, J.F.1    Najjar, V.A.2
  • 2
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    • Servedio V, d'Apolito M, Maiorano N, et al: Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation. Hum Mutat 25: 325, 2005.
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    • Servedio, V.1    D'Apolito, M.2    Maiorano, N.3
  • 3
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    • Identification of defect in the genes for bilirubin UDP-glucuronosyl- transferase in a patient with Crigler-Najjar syndrome type II
    • Aono S, Yamada Y, Keino H, et al: 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: 1239-1244, 1993.
    • (1993) Biochem Biophys Res Commun , vol.197 , pp. 1239-1244
    • Aono, S.1    Yamada, Y.2    Keino, H.3
  • 4
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    • A new type of defect in the gene for bilirubin uridine 5'-diphosphate- glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I
    • Aono S, Yamada Y, Keino H, et al: A new type of defect in the gene for bilirubinuridine 5′-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type I. Pediatr Res 6: 629-632, 1994. (Pubitemid 24151422)
    • (1994) Pediatric Research , vol.35 , Issue.6 , pp. 629-632
    • Aono, S.1    Yamada, Y.2    Keino, H.3    Sasaoka, Y.4    Nakagawa, T.5    Onishi, S.6    Mimura, S.7    Koiwai, O.8    Sato, H.9
  • 5
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    • Sequence of exons and flanking regions of human bilirubin UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome type I
    • Bosma PJ, Roy Chowdhury N, Goldhoorn BG, et al: Sequence of exons and 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: 941-947, 1992.
    • (1992) Hepatology , vol.15 , pp. 941-947
    • Bosma, P.J.1    Roy Chowdhury, N.2    Goldhoorn, B.G.3
  • 6
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    • Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient
    • Ritter JK, Yeatman MT, Ferreira P, et al: Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient. J Clin Invest 9: 150-155, 1992.
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    • Ritter, J.K.1    Yeatman, M.T.2    Ferreira, P.3
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    • Genetic lesions of bilirubin-diphosphoglucuronate glucosyltransferase (UGT1A1) causing Crigler-Najjar Gilbert syndromes: Correlation of genotype to phenotype
    • Kadakol A, Ghosh SS, Sappal BS, et al: Genetic lesions of bilirubin-diphosphoglucuronate glucosyltransferase (UGT1A1) causing Crigler-Najjar Gilbert syndromes: correlation of genotype to phenotype. Hum Mutat 4: 297-306, 2000.
    • (2000) Hum Mutat , vol.4 , pp. 297-306
    • Kadakol, A.1    Ghosh, S.S.2    Sappal, B.S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.