Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient.

Abstract

Patients with Crigler-Najjar syndrome (CN) type I inherit an autosomal recessive trait for hyperbilirubinemia, which is characterized by the total absence of bilirubin UDP-glucuronosyltransferase (transferase) activity. The recent identification of two bilirubin transferase isoforms with identical carboxyl termini (Ritter, J. K., J. M. Crawford, and I. S… (More)

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@article{Ritter1992IdentificationOA, title={Identification of a genetic alteration in the code for bilirubin UDP-glucuronosyltransferase in the UGT1 gene complex of a Crigler-Najjar type I patient.}, author={Joseph K. Ritter and Matthew T. Yeatman and Pedro A. Ferreira and Ida S. Owens}, journal={The Journal of clinical investigation}, year={1992}, volume={90 1}, pages={150-5} }