Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.

Mutations in the X-chromosomal V2 receptor gene are known to cause nephrogenic diabetes insipidus (NDI). Besides the X-linked form, an autosomal mode of inheritance has been described. Recently, mutations in the autosomal gene coding for water-channel aquaporin 2 (AQP2) of the renal collecting duct...

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Dettagli Bibliografici
Autori principali: van Lieburg, A. F., Verdijk, M. A., Knoers, V. V., van Essen, A. J., Proesmans, W., Mallmann, R., Monnens, L. A., van Oost, B. A., van Os, C. H., Deen, P. M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1994
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918308/
https://ncbi.nlm.nih.gov/pubmed/7524315
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