Article
Identification of five novel arginine vasopressin gene mutations in patients with familial neurohypophyseal diabetes insipidus.
International journal of molecular medicine - 1 Oct 2016
Tian Dan, Cen Jing, Nie Min, Gu Feng
Abstract excerpt
Familial neurohypophyseal diabetes insipidus (FNDI) is a genetic disorder presenting with polyuria and polydipsia and is caused by mutations in the arginine vasopressin-neurophysin II (AVP-NPII) gene. The clinical manifestations of this disorder vary greatly depending on different mutations. The present study reports the genetic, clinical and biochemical characteristics of patients with FNDI caused by five novel...
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