p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation

Human Mutation - Tập 30 Số 10 - Trang E891-E903 - 2009
Paul J.M. Savelkoul1,2, Fabrizio De Mattia1,2, Yuedan Li2, Erik‐Jan Kamsteeg2, Irene B. M. Konings2, Peter van der Sluijs3, Peter M.T. Deen2
1Both authors contributed equally to this work
2Dept of Physiology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
3Dept of Cell Biology, UMC Utrecht, Utrecht, The Netherlands

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