Hepatology

Novel splice-site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1

  1. Emily Copeland1,
  2. Nisa Renault1,
  3. Marc Renault4,
  4. Sarah Dyack2,
  5. Dennis E Bulman3,
  6. Karen Bedard1,
  7. Anthony Otley2,
  8. Fergall Magee1,2,
  9. Philip Acott2,
  10. Wenda L Greer1,2,*

Article first published online: 26 FEB 2013

DOI: 10.1111/j.1440-1746.2012.07290.x

Issue

Journal of Gastroenterology and Hepatology

Journal of Gastroenterology and Hepatology

Volume 28, Issue 3, pages 560–564, March 2013

Additional Information

How to Cite

Copeland, E., Renault, N., Renault, M., Dyack, S., Bulman, D. E., Bedard, K., Otley, A., Magee, F., Acott, P. and Greer, W. L. (2013), Novel splice-site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1. Journal of Gastroenterology and Hepatology, 28: 560–564. doi: 10.1111/j.1440-1746.2012.07290.x

Author Information

  1. 1

    Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada

  2. 2

    Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada

  3. 3

    Ottawa Hospital Research Institute, Ottawa, Ontario, Canada

  4. 4

    LIAFA, Université Paris Diderot-Paris 7, Paris, France

* Correspondence
Dr Wenda Greer, Division of Hematology, Department of Pathology and Laboratory Medicine, Capital District Health Authority, Mackenzie Building, 5788 University Avenue, Halifax, NS, Canada B3H 1V8. Email: wenda.greer@cdha.nshealth.ca

  1. Potential conflicts of interest: The authors report no conflict of interest.

Publication History

  1. Issue published online: 26 FEB 2013
  2. Article first published online: 26 FEB 2013
  3. Accepted manuscript online: 4 OCT 2012 06:29AM EST
  4. Manuscript Accepted: 11 SEP 2012

Funded by

  • Capital District Health Authority
  • IWK Health Centre

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View Full Article with Supporting Information (HTML) Get PDF (165K)