ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed

Heterozygous ABCB4 variants are not routinely tested in adults with cholestasis because of their supposed rarity and high costs.

Source: Digestive and Liver Disease - December 31, 2020 Category: Gastroenterology Authors: Antonella Avena, Sandro Puggelli, Michael Morris, Andreas Cerny, Alfredo Rep áraz Andrade, Emmanuela Pareti, Florian Bihl, Daniele Cassatella, Isabelle Moix, Elisabetta Merlo, Anne-Laure Rougemont, Pietro Majno-Hurst, Diego Vergani, Giorgina Mieli-Vergan Tags: Liver, Pancreas and Biliary Tract Source Type: research