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Article

Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis.

American journal of human genetics - 1 Sept 1993

Moghrabi N, Clarke D J, Burchell B, Boxer M

Abstract excerpt

Crigler-Najjar syndrome type 1 (CN-1) is a familial disorder characterized by severe unconjugated hyperbilirubinemia and jaundice and leads to kernicterus, neurological damage, and eventual death unless treated with liver transplantation. Previous reports identified mutations in the UGT1 gene complex to be the cause of the disease. The total absence of all phenol/bilirubin UGT proteins and their activities in...

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Identifiers

PMID: 8102509
PMCID: PMC1682423

Genes

CGA

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Cosegregation of intragenic markers with a novel mutation that causes Crigler-Najjar syndrome type I: implication in carrier detection and prenatal diagnosis.PMID 8102509Read ↗

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

Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family.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 ↗

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

Two unrelated patients with rare Crigler-Najjar syndrome type I: two novel mutations and a patient with loss of heterozygosity of UGT1A1 gene.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 ↗

UGT1A1 gene mutation due to Crigler-Najjar syndrome in Iranian patients: identification of a novel mutation.Semantic proximity Read ↗

Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia.Semantic proximity Read ↗

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

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

[Genetic analysis of a child affected with Crigler-Najjar syndrome type II].Semantic proximity Read ↗

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