A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology, and Child Health
Link
http://link.springer.com/content/pdf/10.1186/s12887-019-1555-y.pdf
Reference5 articles.
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2. van Dijk R, Mayayo-Peralta I, Aronson SJ, Kattentidt-Mouravieva AA, van der Mark VA, de Knegt R, Oruc N, Beuers U, Bosma PJ. Disruption of HNF1alpha binding site causes inherited severe unconjugated hyperbilirubinemia. J Hepatol. 2015;63(6):1525–9.
3. Bosma PJ, Chowdhury NR, Goldhoorn BG, Hofker MH, Oude Elferink RP, Jansen PL, Chowdhury JR. 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(5):941–7.
4. Arias IM, Gartner LM, Cohen M, Ezzer JB, Levi AJ. Chronic nonhemolytic unconjugated hyperbilirubinemia with glucuronyl transferase deficiency. Clinical, biochemical, pharmacologic and genetic evidence for heterogeneity. Am J Med. 1969;47(3):395–409.
5. Ashtarinezhad A, Panahyab A, Shaterzadeh-Oskouei S, Khoshniat H, Mohamadzadehasl B, Shirazi FH. Teratogenic study of phenobarbital and levamisole on mouse fetus liver tissue using biospectroscopy. J Pharm Biomed Anal. 2016;128:174–83.
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