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Volumn 92, Issue 1, 2007, Pages 133-134

Seven novel mutations of the UGT1A1 gene in patients with unconjugated hyperbilirubinemia

Author keywords

Bilirubin; Bilirubin UDP glucuronosyltransferase; Crigler Najjar syndrome; Gilbert syndrome; Jaundice; UGT1A1

Indexed keywords

GLUCURONOSYLTRANSFERASE 1A1; PHENOBARBITAL;

EID: 33846923832     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: 10.3324/haematol.10585     Document Type: Article
Times cited : (14)

References (10)
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  • 2
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    • Bosma PJ, Goldhoorn B, Oude Elferink RP, Sinaasappel M, Oostra BA, Jansen PL. A mutation in bilirubin uridine 5′-diphosphate- glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II. Gastroenterology 1993;105:216-20.
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  • 3
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    • The genetic basis of the reduced expression of bilirubin UDP- glucuronosyltransferase 1 in Gilbert's syndrome
    • Bosma PJ, Chowdhury JR, Bakker C, Gantla S, de Boer A, Oostra BA, et al. The genetic basis of the reduced expression of bilirubin UDP- glucuronosyltransferase 1 in Gilbert's syndrome. N Engl J Med 1995;333:1171-5.
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  • 4
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  • 5
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    • The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous beta-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency
    • Sampietro M, Lupica L, Perrero L, Comino A, Martinez di Montemuros F, Cappellini MD, et al. The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous beta-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency. Br J Haematol 1997;99:437-9.
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    • Sampietro, M.1    Lupica, L.2    Perrero, L.3    Comino, A.4    Martinez di Montemuros, F.5    Cappellini, M.D.6
  • 6
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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
    • Bosma PJ, Chowdhury NR, Goldhoorn BG, Hofker MH, Oude Elferink RP, Jansen PL, et al. 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 1992;15:941-7.
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  • 7
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  • 8
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  • 10
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    • Co-occurrence of three different mutations in the bilirubin UDP- glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome
    • Maruo Y, Poon KK, Ito M, Iwai M, Takahashi H, Mori A, et al. Co-occurrence of three different mutations in the bilirubin UDP- glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome. Clin Genet 2003;64:420-3.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.