Article
[Mutations in the arginine vasopressin neurophysin-II gene in familial neurohypophyseal diabetes insipidus patients].
Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion - 1 Jan 2000
Peralta-Leal Valeria, Durán-González Jorge, Leal-Ugarte Evelia
Abstract excerpt
Neurogenic diabetes insipidus (NDI) is a rare condition characterized by polyuria and polydipsia caused by deficient arginine vasopressin hormone production. More than a 50 mutations have been identified for familial autosomic dominant neurogenic diabetes insipidus (FadNDI). These mutations can cause citotoxicity and lead to the degeneration of magnocellular neurons of the hipofisis by aberrant protein...
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