Crigler-Najjar Syndrome Type 2

Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler–Najjar syndrome type II

Kazuo Yamamoto, Hiroshi Satō, Yoshihide Fujiyama et al. · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 1998 · 193 citations

Transcriptional Regulation, Missense Mutations, Mendelian Disorder +11

Variations of the bilirubin uridine-diphosphoglucuronosyl transferase 1A1 gene in healthy Taiwanese

Ching‐Shan Huang, Guo-An Luo, May‐Jen Huang et al. · Pharmacogenetics · 2000 · 111 citations

Haplotype Determination, Allelic Variant, Genetic Disorder +15

Genetic polymorphisms of bilirubin uridine diphosphate‐glucuronosyltransferase gene in Japanese patients with Crigler–Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects

Keisuke Takeuchi, Yoshinao Kobayashi, Shigenori Tamaki et al. · Journal of Gastroenterology and Hepatology · 2004 · 96 citations

Spectrum ofUGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation

Veronica Servedio, Maria D’Apolito, Nunzia Maiorano et al. · Human Mutation · 2005 · 65 citations · Full text

Genetic factors related to unconjugated hyperbilirubinemia amongst adults

Ching‐Shan Huang, May–Jen Huang, Min-Shung Lin et al. · Pharmacogenetics and Genomics · 2005 · 58 citations