Characterization of mutations in ATP8B1 associated with hereditary cholestasis
Leo W. J. Klomp, Julie C. Vargas, Saskia W. C. van Mil, Ludmila Pawlikowska, Sandra S. Strautnieks, Michiel J. T. van Eijk, Jenneke A. Juijn, Carlos Pabón‐Peña, Lauren B. Smith, Joseph A. DeYoung, Jane A. Byrne, Justijn Gombert, Gerda van der Brugge, Ruud Berger, Irena Jankowska, Joanna Pawlowska, Erica Villa, A. S. Knisely, Richard J. Thompson, Nelson B. Freimer, Roderick H. J. Houwen, Laura N. Bull – 30 June 2004 – Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BRIC) are clinically distinct hereditary disorders.