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Article

Genetic contribution of ABCC2 to Dubin‐Johnson syndrome and inherited cholestatic disorders

23 Sept 2019

Abstract excerpt

BACKGROUND AND AIMS: The ABCC2 gene is implicated in Dubin-Johnson syndrome (DJS), a rare autosomal recessive liver disorder. The primary aim of this study was to determine the diagnostic value of ABCC2 genetic testing in the largest cohort of DJS reported to date. The high number of patients with cholestatic manifestations in this series prompted us to evaluate the genetic contribution of rare, potentially...

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PMID: 31544333
DOI: 10.1111/liv.14260

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