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ixed Dubin-Gilbert Syndrome: A Compound Heterozygous Phenotype of Two Novel Variants in ABCC2 Gene 被引量:5

ixed Dubin-Gilbert Syndrome: A Compound Heterozygous Phenotype of Two Novel Variants in ABCC2 Gene
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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).
出处 《Chinese Medical Journal》 SCIE CAS CSCD 2017年第8期1003-1005,共3页 中华医学杂志(英文版)
关键词 ABCC2 Gene Dubin-Johnson Syndrome Gilbert's Syndrome HYPERBILIRUBINEMIA UGTIAI Gene ABCC2 Gene Dubin-Johnson Syndrome Gilbert's Syndrome Hyperbilirubinemia UGTIAI Gene
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