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

Genomics - 1 Oct 1993

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

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PMID: 8276413
DOI: 10.1006/geno.1993.1451

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Identification of an A-to-G missense mutation in exon 2 of the UGT1 gene complex that causes Crigler-Najjar syndrome type 2.PMID 8276413Read ↗

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

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

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

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