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

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 fluctuati...

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Veröffentlicht in:中华医学杂志:英文版 2017, Vol.130 (8), p.1003-1005
1. Verfasser: Jun Jiang Hua-Gui Wang Wei-Li Wu Xiang-Xin Peng
Format: Artikel
Sprache:eng
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Zusammenfassung: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).
ISSN:0366-6999
2542-5641