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Biol. Chem."},{"key":"10.1016\/j.bbabio.2016.08.009_bb0555","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/S0014-5793(96)01381-6","article-title":"Identification of Asp804 and Asp808 as Na+ and K+ coordinating residues in \u03b1-subunit of renal Na,K-ATPase","volume":"400","author":"Pedersen","year":"1997","journal-title":"FEBS Lett."},{"key":"10.1016\/j.bbabio.2016.08.009_bb0560","doi-asserted-by":"crossref","first-page":"1961","DOI":"10.1021\/bi972524q","article-title":"Importance of intramembrane carboxylic acids for occlusion of K+ ions at equilibrium in renal Na,K-ATPase","volume":"37","author":"Nielsen","year":"1998","journal-title":"Biochemistry"},{"key":"10.1016\/j.bbabio.2016.08.009_bb0565","doi-asserted-by":"crossref","first-page":"24987","DOI":"10.1074\/jbc.272.40.24987","article-title":"Evidence that Ser775 in the \u03b1 subunit of the Na,K-ATPase is a residue in the cation binding pocket","volume":"272","author":"Blostein","year":"1997","journal-title":"J. Biol. 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