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

Gitte R. Hinrichs*, Sandrine Baltzer, Tamara Pallien, Per Svenningsen, Emil B. Dalgaard, Jens Michael Hertz, Claus Bistrup, Boye L. Jensen, Enno Klussmann

*Kontaktforfatter

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OriginalsprogEngelsk
TidsskriftKidney International Reports
Vol/bind7
Udgave nummer10
Sider (fra-til)2289-2294
ISSN2468-0249
DOI
StatusUdgivet - okt. 2022

Bibliografisk note

Funding Information:
The work was supported by grants from Region of Southern Denmark and the Deutsche (program-project grant 394046635–SFB 1365) the German Israeli Foundation (GIF, I-1452-203/13-2018), and SPARK Berlin (BIH Validation Fund 2020) to EK. GH and EBD supervised dDAVP test, JMH performed genetic analysis. SB and TP conducted cloning and cell-based experiments. CB was consulting nephrologist. GH, PS, EK and BLJ drafted manuscript. All authors approved the final manuscript.

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