Biochemical Characterization of P4-ATPase Mutations Identified in Patients with Progressive Familial Intrahepatic Cholestasis

Mutations in the P4-ATPase ATP8B1 cause the inherited liver disease progressive familial intrahepatic cholestasis. Several of these mutations are located in conserved regions of the transmembrane domain associated with substrate binding and transport. Assays for P4-ATPase-mediated transport in livin...

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Detalhes bibliográficos
Main Authors: Stone, Alex, Chau, Christopher, Eaton, Christian, Foran, Emily, Kapur, Mridu, Prevatt, Edward, Belkin, Nathan, Kerr, David, Kohlin, Torvald, Williamson, Patrick
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2012
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3510814/
https://ncbi.nlm.nih.gov/pubmed/23060447
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M112.413039
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