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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, and Diseases - United States

doi 10.1016/j.bcmd.2008.12.004

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May 1, 2009

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Elsevier BV

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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, and Diseases - United States

doi 10.1016/j.bcmd.2008.12.004

Full Text

Abstract

Categories

Date

Authors

Publisher

Related search

Identification of a Genetic Alteration in the Code for Bilirubin UDP-glucuronosyltransferase in the UGT1 Gene Complex of a Crigler-Najjar Type I Patient.

A Novel Pathogenic UGT1A1 Variant in a Sudanese Child With Type I Crigler-Najjar Syndrome

Two Unrelated Patients With Rare Crigler-Najjar Syndrome Type I: Two Novel Mutations and a Patient With Loss of Heterozygosity of UGT1A1 Gene

Reduction of Hyperbilirubinemia With Hypericum Extract (St. John's Wort) in a Patient With Crigler-Najjar Syndrome Type II

Discrimination Between Crigler-Najjar Type I and II by Expression of Mutant Bilirubin Uridine Diphosphate-Glucuronosyltransferase.

The First Case of Crigler-Najjar Syndrome Type-1 in Japan

UGT1a1 Gene Mutations in a Tibetan Patient With Crigler-Najjar SyndromeType II - Case Report and Literature Review

Molecular Probes for Identification of UDP-glucuronosyltransferase 1 Gene Polymorphisms for Gilbert's Syndrome Diagnosis

Compound Heterozygosity of a Novel Exon 3 Frameshift (p.R357P Fs*24) Mutation and Y486D Mutation in Exon 5 of the UGT1A1 Gene in a Thai Infant With Crigler-Najjar Syndrome Type 2