A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3
Jean‐Louis Delaunay, Anne‐Marie Durand‐Schneider, Claire Dossier, Thomas Falguières, Julien Gautherot, Anne Davit‐Spraul, Tounsia Aït‐Slimane, Chantal Housset, Emmanuel Jacquemin, Michèle Maurice – 17 October 2015 – Progressive familial intrahepatic cholestasis type 3 is caused by biallelic variations of ABCB4, most often (≥70%) missense. In this study, we examined the effects of 12 missense variations identified in progressive familial intrahepatic cholestasis type 3 patients.