Categoría: Brief Research Report
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Functional inactivation of MDR3 caused by a homozygous ABCB4 missense variant leading to liver failure
Progressive familial intrahepatic cholestasis (PFIC) is a rare hereditary liver disorder that is caused by defective hepatobiliary transport. Variants in ATP binding cassette 4 ( ), encoding phosphatidylcholine floppase MDR3, are a frequent cause; howe…