Associated Papers
Underestimation of the contribution of 211 G to A variation in UGT1A1 to neonatal hyperbilirubinemia in China.
Yang LY
The Journal of Pediatrics, 2022
A novel deletion with two pathogenic variants of UGT1A1 causing Crigler-Najjar syndrome in two unrelated Chinese.
Li W et al.
Clinical Biochemistry, 2019
Genetic lesions in the UGT1A1 genes among Gilbert's syndrome patients from India.
Chiddarwar AS et al.
Molecular Biology Reports, 2018
Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants.
Rodrigues C et al.
Human Mutation, 2015
26377032 (PubMed )
Supplement: supplement_1.pdf
Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.
Canu G et al.
Blood Cells, Molecules & Diseases, 2013
Mutation Analysis in Crigler-Najjar Syndrome Type II-Case Report and Literature Review.
Ranjan P et al.
Journal of Clinical and Experimental Hepatology, 2011
Compound heterozygote of a novel missense mutation (p.K402T) and a double missense mutation (p.[G71R;Y486D]) in type II Crigler-Najjar syndrome.
Maruo Y et al.
Journal of Pediatric Gastroenterology and Nutrition, 2011
Conformational change of UGT1A1 by a novel missense mutation (p.L131P) causing Crigler-Najjar syndrome type I.
Maruo Y et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
Adaptive evolution of multiple-variable exons and structural diversity of drug-metabolizing enzymes.
Li C et al.
Bmc Evolutionary Biology, 2007
[From gene to disease; unconjugated hyperbilirubinemia: Gilbert's syndrome and Crigler-Najjar types I and II].
Drenth JP et al.
Nederlands Tijdschrift Voor Geneeskunde, 2002
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