Sequence of Exons and the Flanking Regions of Human Bilirubin–Udp–Glucuronosyltransferase Gene Complex and Identification of A Genetic Mutation in A Patient With Crigler–Najjar Syndrome, Type I

Abstract excerpt

ABSTRPlCT Crigler–Najjar syndrome, type I is a heterogeneous disorder that may result from mutations of various regions of the bilirubin–UDP–glucuronosyltransferase gene complex that encodes two bilirubin–UDP–glucuronosyltransferase isoforms and a phenol–UDP–glucuronosyltransferase isoform in the human liver. The two bilirubin–UDP–glucuronosyltransferase messenger RNAs and the phenol–UDP–glucuronosyltransferase...

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