Article
Haplotype Structure of the UDP-Glucuronosyltransferase 1A1 (UGT1A1) Gene and Its Relationship to Serum Total Bilirubin Concentration in a Male Korean Population
1 Dec 2003
Abstract excerpt
UDP-glucuronosyltransferase 1A1 (UGT1A1) is the key enzyme for bilirubin conjugation. Defects in this enzyme can cause a nonhemolytic unconjugated hyperbilirubinemia, such as Crigler–Najjar syndrome type 1 (CN1) and 2 (CN2) and Gilbert syndrome (GS). In 1991, the cDNA of the human UGT1A1 gene was cloned, and this led to the identification of genetic defects in patients with CN1, CN2, and GS (1)(2)(3). It was...
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