Characterization of mutations in ATP8B1 associated with hereditary cholestasis

@article{Klomp2004CharacterizationOM,
  title={Characterization of mutations in ATP8B1 associated with hereditary cholestasis},
  author={Leo W. J. Klomp and Julie C. Vargas and Saskia W.C. van Mil and Ludmila Pawlikowska and Sandra S. Strautnieks and Michiel J. T. van Eijk and Jenneke A. Juijn and Carlos Pab{\'o}n-Pe{\~n}a and Lauren B. Smith and Joseph A. Deyoung and Jane A. Byrne and Justijn Gombert and Gerda van der Brugge and Ruud Berger and Irena Jankowska and Joanna Pawłowska and Erica Villa and Alex S. Knisely and Richard J. Thompson and Nelson B. Freimer and Roderick H. J. Houwen and Laura N. Bull},
  journal={Hepatology},
  year={2004},
  volume={40}
}
Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BRIC) are clinically distinct hereditary disorders. PFIC patients suffer from chronic cholestasis and develop liver fibrosis. BRIC patients experience intermittent attacks of cholestasis that resolve spontaneously. Mutations in ATP8B1 (previously FIC1) may result in PFIC or BRIC. We report the genomic organization of ATP8B1 and mutation analyses of 180 families with PFIC or BRIC that identified… 
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