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

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Article

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

American journal of medical genetics - 20 Jan 1997

Ciotti M, Obaray R, Martín M G, Owens I S

Abstract excerpt

Characterization of the UGT1 gene complex locus encoding both multiple bilirubin and phenol UDP-glucuronosyltransferases (transferases) has been critical in identifying mutations in the bilirubin isoforms. This study utilizes this information to identify the bases of deficient bilirubin UDP-glucu...

Topics

Adolescent
Adult
Alleles
Bilirubin
Blotting, Southern
Child, Preschool
Chromatography
Cloning, Molecular
Codon, Nonsense
Crigler-Najjar Syndrome
DNA
Electrophoresis, Polyacrylamide Gel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Exons

Female

Gene Expression Regulation

Gilbert Disease

Glucuronosyltransferase

Humans

Source

Open in PubMed

Identifiers

PMID: 9028453

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9028453-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Genetic defects at the UGT1 locus associated with Crigler-Najjar type I disease, including a prenatal diagnosis.PMID 9028453Read ↗

A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler-Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase.Semantic 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 ↗

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

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

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Genetic heterogeneity of Crigler-Najjar syndrome type I: a study of 14 cases.Semantic proximity Read ↗

Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.Semantic proximity Read ↗

The novel UGT1 gene complex links bilirubin, xenobiotics, and therapeutic drug metabolism by encoding UDP-glucuronosyltransferase isozymes with a common carboxyl terminus.Semantic proximity Read ↗

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

Identification of three novel variants in the UGT1A1 gene as a cause of Crigler-Najjar syndrome type 1Semantic proximity Read ↗

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

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