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
Piter J. Bosma, Namita Roy Chowdhury, Bart G. Goldhoorn, Martin H. Hofker, Ronald P. J. Oude Elferink, Peter L. M. Jansen, Jayanta Roy Chowdhury – 1 May 1992 – 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.