Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome-Reference-Cited by-同舟云学术

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Two linked polymorphic mutations (A(TA)7TAA and T-3279G) of UGT1A1 as the principal cause of Gilbert syndrome

Published:2004-09-17 Issue:6 Volume:115 Page:525-526
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Maruo Yoshihiro,D′ Addario Carlos,Mori Asami,Iwai Masaru,Takahashi Hiroko,Sato Hiroshi,Takeuchi Yoshihiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-004-1183-x.pdf

Reference5 articles.

1. Beutler E, Gelbart T, Demina A (1998) Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism? Proc Natl Acad Sci USA 95:8170–8174

2. Bosma PJ, Chowdhury JR, Bakker C, et al (1995) The genetic basis of the reduced expression of bilirubin UDP-glucuronosyltransferase 1 in Gilbert’s syndrome. N Engl J Med 333:1171–1175

3. Maruo Y, Nishizawa K, Sato H, Doida Y, Shimada M (1999) Association of neonatal hyperbilirubinemia with bilirubin UDP-glucuronosyltransferase polymorphism. Pediatrics 103:1224–1227

4. Sugatani J, Yamakawa K, Yoshinari K, et al (2002) Identification of a defect in the UGT1A1 gene promoter and its association with hyperbilirubinemia. Biochem Biophys Res Commun 292:492–497

5. Ueyama H, Koiwai O, Soeda Y, et al (1997) Analysis of the promoter of human bilirubin UDP-glucuronosyltransferase gene (UGT1*1) in relevance to Gilbert’s syndrome. Hepatol Res 9:152–163

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