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

Blood cells, molecules & diseases - 1 Jan 2000

Costa Elísio, Vieira Emília, Lopes Ana Isabel, Saldanha Maria Joana, Brites Dora, Dos Santos Rosário

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 19217809
DOI: 10.1016/j.bcmd.2008.12.004

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a novel deletion in UDP-glucuronosyltransferase gene in a patient with Crigler-Najjar syndrome type I.PMID 19217809Read ↗

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

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

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

Mutation of UGT1A1 gene in a case of Crigler-Najjar syndrome type II.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 ↗

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

Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler-Najjar syndromes.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 ↗

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 ↗

Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.Semantic proximity Read ↗

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

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