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

doi:10.1016/0016-5085(93)90029-c

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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 al...

Topics

Adult
Crigler-Najjar Syndrome
Female
Glucuronosyltransferase
Humans
Isoenzymes
Male
Mutation
Pedigree

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