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Congenital nephrogenic diabetes insipidus arginine vasopressin receptor 2 gene mutation at new site: A case report
BACKGROUND: Congenital nephrogenic diabetes insipidus (CNDI) is a rare hereditary disorder. It is associated with mutations in the arginine vasopressin receptor 2 (AVPR2) gene and aquaporin 2 (AQP2) gene, and approximately 270 different mutation sites have been reported for AVPR2. Therefore, new mut...
Autores principales: | Yang, Lu-Lu, Xu, Yan, Qiu, Jian-Li, Zhao, Qian-Yi, Li, Man-Man, Shi, Hui |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9850987/ https://www.ncbi.nlm.nih.gov/pubmed/36683631 http://dx.doi.org/10.12998/wjcc.v10.i36.13443 |
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