Gilbert syndrome is the mild form of hereditary unconjugated hyperbilirubinemia. It is caused by mutations in the bilirubin UDP-glucuronosyltransferase gene (UGT1A1), which is essential for biliary excretion of bilirubin.
Maruo Y, Poon KK, Ito M, Iwai M, Takahashi H, Mori A, Sato H, Takeuchi Y
タイトル
Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome.
