Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease.

doi:10.1016/s0925-4439(98)00030-1

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Article

Coding defect and a TATA box mutation at the bilirubin UDP-glucuronosyltransferase gene cause Crigler-Najjar type I disease.

Biochimica et biophysica acta - 1 Jul 1998

Ciotti M, Chen F, Rubaltelli F F, Owens I S

Abstract excerpt

Mutations at the bilirubin UDP-glucuronosyltransferase (transferase) gene in a severely hyperbilirubinemic Crigler-Najjar (CN) type I individual was compared with that in a moderately hyperbilirubinemic CN II individual. The CN-I (CF) patient in this study sustained a TATA box insertional mutatio...

Topics

Bilirubin
Child, Preschool
Crigler-Najjar Syndrome
Female
Genes, Reporter
Glucuronosyltransferase
Heterozygote
Humans
Hyperbilirubinemia
Infant, Newborn
Mutation
Polymerase Chain Reaction
Sequence Analysis, DNA
TATA Box
Transcription, Genetic
Transfection

Source

Open in PubMed

Identifiers

PMID: 9639672
DOI: 10.1016/s0925-4439(98)00030-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9639672-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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