A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers

Marie Helene Schernthaner-Reiter, David Adams, Giampaolo Trivellin, Mary Scott Ramnitz, Margarita Raygada, Gretchen Golas, Fabio R. Faucz, Ola Nilsson, Aikaterini A. Nella, Kavitha Dileepan, Maya Lodish, Paul Lee, Cynthia Tifft, Thomas Markello, William Gahl, Constantine A. Stratakis

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Immunology and Microbiology

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Biochemistry, Genetics and Molecular Biology