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...

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Detalles Bibliográficos
Autores principales: Lemaire, Mathieu, Chitayat, David, Geary, Denis F., Bichet, Daniel G., Licht, Christoph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2009
Materias:
Case Report
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

Internet

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

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