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

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Biochemistry, Genetics and Molecular Biology