A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis

@article{Bull1998AGE,
  title={A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis},
  author={Laura N. Bull and Michiel JT van Eijk and Ludmila Pawlikowska and Joseph A. Deyoung and Jenneke A. Juijn and M Liao and Leo W. J. Klomp and Nour-eddine Lomri and Ruud Berger and Bruce R. Scharschmidt and Alex S. Knisely and Roderick H. J. Houwen and Nelson B. Freimer},
  journal={Nature Genetics},
  year={1998},
  volume={18},
  pages={219-224}
}
Cholestasis, or impaired bile flow, is an important but poorly understood manifestation of liver disease. Two clinically distinct forms of inherited cholestasis, benign recurrent intrahepatic cholestasis (BRIC) and progressive familial intrahepatic cholestasis type 1 (PFIC1), were previously mapped to 18q21. Haplotype analysis narrowed the candidate region for both diseases to the same interval of less than 1 cM, in which we identified a gene mutated in BRIC and PFIC1 patients. This gene… 
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A locus for progressive familial intrahepatic cholestasis (PFIC), also known as Byler disease, has been mapped to a 19 cM region of chromosome 18 by a search for shared segments, using patients from
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TLDR
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TLDR
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TLDR
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