Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy

@article{Dixon2008ContributionOV,
  title={Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy},
  author={P. Dixon and S. V. van Mil and J. Chambers and S. Strautnieks and R. J. Thompson and F. Lammert and R. Kubitz and V. Keitel and A. Glantz and L-{\AA} Mattsson and H-U Marschall and M. Molokhia and G. Moore and K. J. Linton and C. Williamson},
  journal={Gut},
  year={2008},
  volume={58},
  pages={537 - 544}
}
  • P. Dixon, S. V. van Mil, +12 authors C. Williamson
  • Published 2008
  • Medicine, Biology
  • Gut
  • Background: Intrahepatic cholestasis of pregnancy (ICP) has a complex aetiology with a significant genetic component. ABCB11 encodes the bile salt export pump (BSEP); mutations cause a spectrum of cholestatic disease, and are implicated in the aetiology of ICP. Methods: ABCB11 variation in ICP was investigated by screening for five mutant alleles (E297G, D482G, N591S, D676Y and G855R) and the V444A polymorphism (c.1331T>C, rs2287622) in two ICP cohorts (n = 333 UK, n = 158 continental Europe… CONTINUE READING

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