Mixed Dubin-Gilbert Syndrome: A Compound Heterozygous Phenotype of Two Novel Variants in ABCC2 Gene

作者：Jiang, Jun; Wang, Hua-Gui; Wu, Wei-Li; Peng, Xiang-Xin^*

来源：Chinese Medical Journal, 2017, 130(8): 1003-+.

DOI：10.4103/0366-6999.204108

• ABCC2 Gene
• Dubin-Johnson Syndrome
• Gilbert's Syndrome
• Hyperbilirubinemia
• UGT1A1 Gene

<正>IntroductionGilbert syndrome (GS, MIM #143500) is characterized by fluctuating mild, unconjugated hyperbilirubinemia <85 μmol/L and is caused by mutations in the bilirubin uridine diphosphate (UDP)

• 出版日期2017-4-20
• 单位中国科学院北京基因组研究所; 中日友好医院