Article
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.
Clinical genetics - 1 Nov 2003
Maruo Y, Poon K K-H, Ito M, Iwai M, Takahashi H, Mori A, Sato H, Takeuchi Y
Abstract excerpt
Crigler-Najjar syndrome type I is a severe form of hereditary unconjugated hyperbilirubinemia and is caused by homozygous or compound heterozygous mutations of the bilirubin UDP-glucuronosyltransferase gene (UGT1A1). We analyzed the bilirubin UDP-glucuronosyltransferase gene in a female Chinese p...
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