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A Novel Mutation of the Arginine Vasopressin Receptor 2 Gene in a Patient with Congenital Nephrogenic Diabetes Insipidus
We have identified a novel mutation of the arginine vasopressin receptor 2 (AVPR2) gene in a case of congenital X-linked nephrogenic diabetes insipidus (NDI). The patient was a 2-mo-old Japanese boy with persistent fever and failure to thrive. He was diagnosed as having congenital NDI by clinical an...
Autores principales: | Tajima, Asako, Miyata, Ichiro, Katayama, Akira, Toyoda, Shigeru, Eto, Yoshikatsu |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Japanese Society for Pediatric Endocrinology
2005
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4004929/ https://www.ncbi.nlm.nih.gov/pubmed/24790307 http://dx.doi.org/10.1297/cpe.14.27 |
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