ABCB4 disease-causing variants S242R, S346I, T437I and T1077M significantly impair its function and display differential sensitivity to potentiators
ABCB4致病变异体S242R、S346I、T437I和T1077M显著损害其功能，并且对增强剂表现出不同的敏感性。
期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-28407-6
Madry, Claire; Elbahnsi, Ahmad; Delaunay, Jean-Louis; Stary, Anne; Lagaye, Sylvie; Couvert, Philippe; Corpechot, Christophe; Lemoinne, Sara; Chignard, Nicolas; Boucherle, Benjamin; Gautheron, Jérémie; Décout, Jean-Luc; Callebaut, Isabelle; Aït-Slimane, Tounsia
