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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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| Auteurs principaux: | , , , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
American Society for Biochemistry and Molecular Biology
2012
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| Sujets: | |
| Accès en ligne: | 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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