Article
UGT1A1(TA)n promoter polymorphism--a new case of a (TA)8 allele in Caucasians.
Blood cells, molecules & diseases - 1 Jan 2000
Ostanek Barbara, Furlan Danijela, Mavec Tina, Lukac-Bajalo Jana
Abstract excerpt
Gilbert's syndrome is a mild hereditary unconjugated hyperbilirubinemia caused by mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1). The causative mutation in Caucasians is almost exclusively a TA dinucleotide insertion in the TATA box of the UGT1A1 promoter. Affected individuals are homozygous for the variant promoter and have 7 instead of 6 TA repeats. The aim of the present study was to...
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