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

作　　者：Jun Jiang Hua-Gui Wang Wei-Li Wu Xiang-Xin Peng 

机构地区：[1]The Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing 100101, China [2]Department of Infectious Diseases, China-Japan Friendship Hospital, Beijing 100029, China

出　　处：《Chinese Medical Journal》2017年第8期1003-1005,共3页中华医学杂志（英文版）

摘　　要：Gilbert 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）-glucuronosyltransferase gene （ UGT1A 1 ）,Dubin-Johnson syndrome （DJS, M I M #237500） is characterized by fluctuating mild, predominantly conjugated hyperbilirubinemia and is caused by mutations in the ATP-binding cassette subfamily C member 2 gene （ABCC2）.Gilbert 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）-glucuronosyltransferase gene （ UGT1A 1 ）,Dubin-Johnson syndrome （DJS, M I M #237500） is characterized by fluctuating mild, predominantly conjugated hyperbilirubinemia and is caused by mutations in the ATP-binding cassette subfamily C member 2 gene （ABCC2）.

关 键 词：ABCC2 Gene Dubin-Johnson Syndrome Gilbert＇s Syndrome HYPERBILIRUBINEMIA UGTIAI Gene 

分 类 号：Q987[生物学—遗传学] Q949.409[生物学—人类学]