Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus—update and epidemiology

It is clinically useful to distinguish between two types of hereditary nephrogenic diabetes insipidus (NDI): a ‘pure’ type characterized by loss of water only and a complex type characterized by loss of water and ions. Patients with congenital NDI bearing mutations in the vasopressin 2 receptor gene...

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Detalles Bibliográficos
Autores principales: Bichet, Daniel G., El Tarazi, Abdulah, Matar, Jessica, Lussier, Yoann, Arthus, Marie-Françoise, Lonergan, Michèle, Bockenhauer, Detlef, Bissonnette, Pierre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Original Contributions
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4400507/
https://www.ncbi.nlm.nih.gov/pubmed/26069764
http://dx.doi.org/10.1093/ckj/sfs029

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