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

Emily Copeland, Nisa Renault, Marc Renault, Sarah Dyack, Dennis E. Bulman, Karen Bedard, Anthony Otley, Fergall Magee, Philip Acott, Wenda L. Greer

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)
Original languageEnglish
Pages (from-to)560-564
Number of pages5
JournalJournal of Gastroenterology and Hepatology (Australia)
Volume28
Issue number3
DOIs
Publication statusPublished - Mar 2013

ASJC Scopus Subject Areas

  • Gastroenterology
  • Hepatology

Keywords

  • Abnormal sweat chloride
  • Bile duct paucity
  • Byler disease
  • Cardiac anomaly
  • Progressive Familial Intrahepatic Cholestasis Type 1
  • Renal tubular acidosis

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