Article
Common ABCB4 and ABCB11 Genotypes Are Associated with Idiopathic Chronic Cholestasis in Adults.
Digestive diseases (Basel, Switzerland) - 1 Jan 2022
Jüngst Christoph, Justinger Christina, Fischer Janett, Berg Thomas, Lammert Frank
Abstract excerpt
INTRODUCTION: Pathogenic mutations in genes encoding the hepatocanalicular transporters ATP8B1, ABCB11 and ABCB4 are causative for progressive cholestatic liver disease in children. In adults, less severe variants such as the common ABCB4 c.711A>T polymorphism have been associated with intrahepatic cholestasis in pregnancy and elevated liver enzymes. Hence, our aim was to study the role of common polymorphisms in...
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