Associated Papers
Novel Missense Mutation inSP110Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD.
Delmonte OM et al.
Journal of Clinical Immunology, 2020
Analysis of the UGT1A1 Genotype in Hyperbilirubinemia Patients: Differences in Allele Frequency and Distribution.
Mi XX et al.
Biomed Research International, 2019
Genetic lesions in the UGT1A1 genes among Gilbert's syndrome patients from India.
Chiddarwar AS et al.
Molecular Biology Reports, 2018
Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.
Li L et al.
Plos One, 2015
25993113 (PubMed )
Supplement: pone.0126263.s002.docx
Identification of Promotor and Exonic Variations, and Functional Characterization of a Splice Site Mutation in Indian Patients with Unconjugated Hyperbilirubinemia.
Gupta N et al.
Plos One, 2015
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
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