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Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus
Nephrogenic diabetes insipidus (NDI) is a rare disorder characterized by renal unresponsiveness to the hormone vasopressin, leading to excretion of large volumes of diluted urine. Mutations in the arginine vasopressin receptor-2 (AVPR2) gene cause congenital NDI and have an X-linked recessive inheri...
Autores principales: | Selvaraj, Senthil, Rodrigues, Dírcea, Krishnamoorthy, Navaneethakrishnan, Fakhro, Khalid A., Saraiva, Luís R., Lemos, Manuel C. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8779739/ https://www.ncbi.nlm.nih.gov/pubmed/35055433 http://dx.doi.org/10.3390/jpm12010118 |
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