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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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Библиографические подробности
Главные авторы: Stone, Alex, Chau, Christopher, Eaton, Christian, Foran, Emily, Kapur, Mridu, Prevatt, Edward, Belkin, Nathan, Kerr, David, Kohlin, Torvald, Williamson, Patrick
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Biochemistry and Molecular Biology 2012
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Online-ссылка: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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