Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study
Molecular diagnosis is a useful diagnostic tool in primary nephrogenic diabetes insipidus (NDI), an inherited disease characterized by renal inability to concentrate urine. The AVPR2 and AQP2 genes were screened for mutations in a cohort of 25 patients with clinical diagnosis of NDI. Patients presen...
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| Autores principales: | , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Artículo |
| Lenguaje: | inglés |
| Publicado: |
2015
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| Materias: | |
| Acceso en línea: | Ver en el sistema de origen Enlace permanente (DOI o Handle) Enlace permanente (DOI o Handle) |
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