Literature citations
A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis.
Lucena J.-F.; Herrero J.I.; Quiroga J.; Sangro B.; Garcia-Foncillas J.; Zabalegui N.; Sola J.; Herraiz M.; Medina J.F.; Prieto J.;
Gastroenterology 124:1037-1042(2003)
Cited for: VARIANT PFIC3 ASP-535;
Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).
Delaunay J.L.; Bruneau A.; Hoffmann B.; Durand-Schneider A.M.; Barbu V.; Jacquemin E.; Maurice M.; Housset C.; Callebaut I.; Ait-Slimane T.;
Hepatology 65:560-570(2017)
Cited for: CHARACTERIZATION OF VARIANTS GBD1 ARG-536; LEU-726; LEU-1183 AND SER-1185; CHARACTERIZATION OF VARIANT PFIC3 ASP-535; SUBCELLULAR LOCATION; FUNCTION;
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