학술논문
A novel AVPR2 splice site mutation leads to partial X-linked nephrogenic diabetes insipidus in two brothers.
Document Type
Journal Article
Author
Schernthaner-Reiter, Marie; Adams, David; Trivellin, Giampaolo; Ramnitz, Mary; Raygada, Margarita; Golas, Gretchen; Faucz, Fabio; Nilsson, Ola; Nella, Aikaterini; Dileepan, Kavitha; Lodish, Maya; Lee, Paul; Tifft, Cynthia; Markello, Thomas; Gahl, William; Stratakis, Constantine; Schernthaner-Reiter, Marie Helene; Ramnitz, Mary Scott; Faucz, Fabio R; Nella, Aikaterini A
Source
Subject
*VASOPRESSIN
*G protein coupled receptors
*DIABETES insipidus
*RNA splicing
*DESMOPRESSIN
*DIAGNOSIS
*THERAPEUTICS
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Language
ISSN
0340-6199
Abstract