Identification of a novel mutation in UDP-glucuronosyltransferase (UGT1A1) gene in a child with neonatal unconjugated hyperbilirubinemia
Author:
Publisher
Elsevier BV
Subject
Clinical Biochemistry,General Medicine
Reference11 articles.
1. Interaction of coding region mutations and the Gilbert-type promoter abnormality of the UGT1A1 gene causes moderate degrees of unconjugated hyperbilirubinaemia and may lead to neonatal kernicterus;Kadakol;J Med Genet,2001
2. Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler–Najjar syndromes;Costa;Blood Cells Mol Dis,2006
3. A phenylalanine codon deletion at the UGT1 gene complex locus of a Crigler–Najjar type I patient generates a pH-sensitive bilirubin UDP-glucuronosyltransferase;Ritter;J Biol Chem,1993
4. Base-calling of automated sequencer traces using phred. II. Error probabilities;Ewing;Genome Res,1998
5. Analysis of the UDP-glucuronosyltransferase gene in Portuguese patients with a clinical diagnosis of Gilbert and Crigler–Najjar syndromes;Costa;Blood Cells Mol Dis,2006
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1. Type II Crigler-Najjar syndrome: a case report and literature review;Frontiers in Medicine;2024-05-09
2. Crigler-Najjar Syndrome: Current Perspectives and the Application of Clinical Genetics;Endocrine, Metabolic & Immune Disorders - Drug Targets;2018-04-02
3. Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5′-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis;BMC Pediatrics;2014-10-15
4. Gilbert and Crigler Najjar syndromes: An update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database;Blood Cells, Molecules, and Diseases;2013-04
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