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A novel disease-causing mutation in AVPR2: Q96H
A 4-month-old male infant was diagnosed with nephrogenic diabetes insipidus (NDI). Genetic testing of the arginine vasopressin receptor-2 (AVPR2) yielded a novel X-linked mutation, termed Q96H, in both the propositus and his mother; there was no family history. Protein sequence comparison between AV...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2009
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421472/ https://www.ncbi.nlm.nih.gov/pubmed/25949277 http://dx.doi.org/10.1093/ndtplus/sfn163 |