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Article

A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II.

Gastroenterology - 1 Jul 1993

Bosma P J, Goldhoorn B, Oude Elferink R P, Sinaasappel M, Oostra B A, Jansen P L

Abstract excerpt

BACKGROUND: Inherited unconjugated hyperbilirubinemia in Crigler-Najjar type II (CN II) is caused by a strong reduction of bilirubin uridine 5'-diphosphate-glucuronosyltransferase (B-UGT) activity. Both B-UGT isoenzymes (B-UGT1 and B-UGT2) identified in humans are derived from a single gene by alternative splicing. To clarify the genetic background of CN II and the role of both B-UGT forms in the physiological...

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PMID: 8514037
DOI: 10.1016/0016-5085(93)90029-c

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A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II.PMID 8514037Read ↗

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