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Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.
Marr N, Bichet DG, Hoefs S, Savelkoul PJ, Konings IB, De Mattia F, Graat MP, Arthus MF, Lonergan M, Fujiwara TM, Knoers NV, Landau D, Balfe WJ, Oksche A, Rosenthal W, Müller D, Van Os CH, Deen PM. Marr N, et al. J Am Soc Nephrol. 2002 Sep;13(9):2267-77. doi: 10.1097/01.asn.0000027355.41663.14. J Am Soc Nephrol. 2002. PMID: 12191971
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