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Volumn 43, Issue 2, 1998, Pages 111-114

Analysis of bilirubin undine 5′-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II

Author keywords

Crigler Najjar syndrome type II; Inheritance; Mutation

Indexed keywords

BILIRUBIN GLUCURONOSIDE GLUCURONOSYLTRANSFERASE; DNA; GLUCURONOSYLTRANSFERASE;

EID: 0031616354     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050050     Document Type: Article
Times cited : (41)

References (15)
  • 2
    • 0028287482 scopus 로고
    • A new type of defect in the gene for bilirubin uridine 5′-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type 1
    • Aono S, Yamada Y, Keino H, Sasaoka Y, Nakagawa T, Onishi S, Mimura S, Koiwai O, Sato H (1994) A new type of defect in the gene for bilirubin uridine 5′-diphosphate-glucuronosyltransferase in a patient with Crigler-Najjar syndrome type 1. Pediatr Res 35: 629-632
    • (1994) Pediatr Res , vol.35 , 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
  • 3
  • 4
    • 0001400656 scopus 로고
    • Chronic unconjugated hyperbilirubinemia without overt signs of hemolysis in adolescents and adults
    • Arias IM (1962) Chronic unconjugated hyperbilirubinemia without overt signs of hemolysis in adolescents and adults. J Clin Invest 41: 2233-2245
    • (1962) J Clin Invest , vol.41 , pp. 2233-2245
    • Arias, I.M.1
  • 5
    • 0014579106 scopus 로고
    • Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency
    • Arias IM, Gartner LM, Cohen M, Ezzer JB, Levi AJ (1969) Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Am J Med 47: 395-409
    • (1969) Am J Med , vol.47 , pp. 395-409
    • Arias, I.M.1    Gartner, L.M.2    Cohen, M.3    Ezzer, J.B.4    Levi, A.J.5
  • 6
    • 0016242629 scopus 로고
    • Effects of glutethimide and phenobarbital on hepatic bilirubin clearance, plasma bilirubin turnover, and carbon monoxide production in man
    • Blaschke TF, Berk PD, Rodkey FL, Scharschmidt BF, Collison HA, Waggoner JG (1974) Effects of glutethimide and phenobarbital on hepatic bilirubin clearance, plasma bilirubin turnover, and carbon monoxide production in man. Biochem Pharmacol 23: 2795-2806
    • (1974) Biochem Pharmacol , vol.23 , pp. 2795-2806
    • Blaschke, T.F.1    Berk, P.D.2    Rodkey, F.L.3    Scharschmidt, B.F.4    Collison, H.A.5    Waggoner, J.G.6
  • 7
    • 0027234052 scopus 로고
    • A mutation in bilirubin uridine 5′-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II
    • Bosma PJ, Goldhoorn B, Oude Elferink RPJ, Sinaasappel M, Oostra BA, Jansen PLM (1993) A mutation in bilirubin uridine 5′-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. Gastroenterology 105: 216-220
    • (1993) Gastroenterology , vol.105 , pp. 216-220
    • Bosma, P.J.1    Goldhoorn, B.2    Oude Elferink, R.P.J.3    Sinaasappel, M.4    Oostra, B.A.5    Jansen, P.L.M.6
  • 9
    • 0015545331 scopus 로고
    • Inheritance of type 2 Crigler-Najjar hyperbilirubinemia
    • Hunter JO, Thompson RPH, Dunn PM, Williams R (1973) Inheritance of type 2 Crigler-Najjar hyperbilirubinemia. Gut 14: 46-49
    • (1973) Gut , vol.14 , pp. 46-49
    • Hunter, J.O.1    Thompson, R.P.H.2    Dunn, P.M.3    Williams, R.4
  • 10
    • 0029015847 scopus 로고
    • Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase
    • Koiwai O, Nishizawa M, Hasada K, Aono S, Adachi Y, Mamiya N, Sato H (1995) Gilbert's syndrome is caused by a heterozygous missense mutation in the gene for bilirubin UDP-glucuronosyltransferase. Hum Mol Genet 4: 1183-1186
    • (1995) Hum Mol Genet , vol.4 , pp. 1183-1186
    • Koiwai, O.1    Nishizawa, M.2    Hasada, K.3    Aono, S.4    Adachi, Y.5    Mamiya, N.6    Sato, H.7
  • 12
    • 0027524805 scopus 로고
    • 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 (1993) Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2. Genomics 18: 171-173
    • (1993) Genomics , vol.18 , pp. 171-173
    • Moghrabi, N.1    Clarke, D.J.2    Boxer, M.3    Burchell, B.4
  • 13
    • 0026701911 scopus 로고
    • A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini
    • Ritter JK, Chen F, Sheen YY, Tran HM, Kimura S, Yeatman MT, Owens IS (1992) A novel complex locus UGT1 encodes human bilirubin, phenol, and other UDP-glucuronosyltransferase isozymes with identical carboxyl termini. J Biol Chem 267: 3257-3261
    • (1992) J Biol Chem , vol.267 , pp. 3257-3261
    • Ritter, J.K.1    Chen, F.2    Sheen, Y.Y.3    Tran, H.M.4    Kimura, S.5    Yeatman, M.T.6    Owens, I.S.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.