Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel

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作者
Pia Dollerup
Troels Møller Thomsen
Lene N. Nejsum
Mia Færch
Martin Österbrand
Niels Gregersen
Søren Rittig
Jane H. Christensen
Thomas J. Corydon
机构
[1] Aarhus University,Department of Biomedicine
[2] Aarhus University,Department of Molecular Biology and Genetics and iNANO
[3] Aarhus University Hospital,Department of Pediatrics
[4] Queen Silvia Children’s Hospital,Department of Pediatrics
[5] Aarhus University Hospital,Research Unit for Molecular Medicine, Department of Clinical Medicine
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关键词
Aquaporin 2; Diabetes insipidus; Congenital nephrogenic diabetes insipidus; Lentivirus; Cellular trafficking; Intracellular localization;
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