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UGT1A1 (TA) n promoter genotype: Diagnostic and population pharmacogenetic marker in Serbia

1 Jun 2018

Abstract excerpt

Abstract The UGT1A1 enzyme is involved in the metabolism of bilirubin and numerous medications. Unconjugated hyperbilirubinemia, commonly presented as Gilbert syndrome (GS), is a result of decreased activity of the UGT1A1 enzyme, variable number of TA repeats in the promoter of the UGT1A1 gene affects enzyme activity. Seven and eight TA repeats cause a decrease of UGT1A1 activity and risk GS alleles, while six TA...

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PMID: 30425912
DOI: 10.2478/bjmg-2018-0012

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