A novel AQP2 sequence variant causing aquaporin-2 retention in the cytoplasm and autosomal dominant nephrogenic diabetes insipidus

Autor: Hinrichs, G.R., Baltzer, S., Pallien, T., Svenningsen, P., Dalgaard, E.B., Hertz, J.M., Bistrup, C., Jensen, B.L., Klussmann, E.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=mdc______med::62cbe8ebdcd9bc78ca71f0bf5fe5ab43
http://edoc.mdc-berlin.de/21829/1/21829oa.pdf

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A Novel AQP2 Sequence Variant Causing Aquaporin-2 Retention in the Cytoplasm and Autosomal Dominant Nephrogenic Diabetes Insipidus.

Autor: Hinrichs GR; Department of Molecular Medicine, Cardiovascular and Renal Research, University of Southern Denmark, Odense, Denmark.; Department of Nephrology, Odense University Hospital, Odense, Denmark., Baltzer S; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.; Institute of Chemistry, Technische Universität Berlin, Berlin, Germany., Pallien T; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany., Svenningsen P; Department of Molecular Medicine, Cardiovascular and Renal Research, University of Southern Denmark, Odense, Denmark., Dalgaard EB; Department of Nephrology, Odense University Hospital, Odense, Denmark., Hertz JM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Bistrup C; Department of Nephrology, Odense University Hospital, Odense, Denmark.; Department of Clinical Research, University of Southern Denmark, Odense, Denmark., Jensen BL; Department of Molecular Medicine, Cardiovascular and Renal Research, University of Southern Denmark, Odense, Denmark., Klussmann E; Max-Delbrück-Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.; German Center for Cardiovascular Research, Partner Site Berlin, Berlin, Germany.

Publikováno v: Kidney international reports [Kidney Int Rep] 2022 Jul 12; Vol. 7 (10), pp. 2289-2294. Date of Electronic Publication: 2022 Jul 12 (Print Publication: 2022).