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Article

Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.

1 Feb 1994

Abstract excerpt

Accumulating evidence indicates that mutations in the human UGT1 gene locus abolish hepatic bilirubin UDP-glucuronosyltransferase activity and cause the subsequent accumulation of bilirubin to toxic levels in patients with Crigler-Najjar type 1 (CN-I). Genetic and biochemical criteria are required to link CN-I with mutations in UGT1. Here we present analysis of mutations at the UGT1 locus in three individuals...

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Identifiers

PMID: 7906695
DOI: 10.1172/jci117008

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of two single base substitutions in the UGT1 gene locus which abolish bilirubin uridine diphosphate glucuronosyltransferase activity in vitro.PMID 7906695Read ↗

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

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

Splice-site mutations: a novel genetic mechanism of Crigler-Najjar syndrome type 1.Semantic proximity Read ↗

A novel intronic mutation results in the use of a cryptic splice acceptor site within the coding region of UGT1A1, causing Crigler-Najjar syndrome type 1.Semantic proximity Read ↗

Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.Semantic proximity Read ↗

Genetic defects of the UDP-glucuronosyltransferase-1 (UGT1) gene that cause familial non-haemolytic unconjugated hyperbilirubinaemias.Semantic proximity Read ↗

Genetic defects at the UGT1 locus associated with Crigler-Najjar type I disease, including a prenatal diagnosis.Semantic proximity Read ↗

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Disruption of the Ugt1 Locus in Mice Resembles Human Crigler-Najjar Type I DiseaseSemantic proximity Read ↗

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