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Article

A New Type of Defect in the Gene for Bilirubin Uridine 5 '-Diphosphate-Glucuronosyltransferase in a Patient with Crigler-Najjar Syndrome Type I

1 Jun 1994

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 7936809
DOI: 10.1203/00006450-199406000-00002

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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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A New Type of Defect in the Gene for Bilirubin Uridine 5 '-Diphosphate-Glucuronosyltransferase in a Patient with Crigler-Najjar Syndrome Type IPMID 7936809Read ↗

Identification of Defect in the Genes for Bilirubin UDP-Glucuronosyltransferase in a Patient with Crigler-Najjar Syndrome Type IISemantic proximity Read ↗

Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene.Semantic proximity Read ↗

Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I.Semantic proximity Read ↗

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

Analysis of genes for bilirubin UDP-glucuronosyltransferase in Gilbert's syndromeSemantic proximity Read ↗

A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler-Najjar syndrome type II.Semantic proximity Read ↗

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 ISemantic proximity Read ↗

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 ↗

Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.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 ↗

Analysis of bilirubin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II.Semantic proximity Read ↗

Crigler-Najjar syndrome type 2.Semantic proximity Read ↗

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