Gilbert and Crigler Najjar syndromes: An update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Hematology,Molecular Biology,Molecular Medicine
Reference57 articles.
1. Hematologically important mutations: bilirubin UDP-glucuronosyltransferase gene mutations in Gilbert and Crigler–Najjar syndromes;Costa;Blood Cells Mol. Dis.,2006
2. Crigler–Najjar type II syndrome may result from several types and combinations of mutations in the UGT1A1 gene;Petit;Clin. Genet.,2006
3. A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler–Najjar type II;Seppen;FEBS Lett.,1996
4. Spectrum of UGT1A1 mutations in Crigler–Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype–phenotype correlation;Servedio;Hum. Mutat.,2005
5. Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltranferase (UGT1A1) causing Crigler–Najjar and Gilbert syndromes: correlation of genotype to phenotype;Kadakol;Hum. Mutat.,2000
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2. Case report: Crigler-Najjar syndrome type 1 in Croatia—more than a one in a million: a case series;Frontiers in Pediatrics;2023-10-19
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