Article
Recurrent mutations in the vasopressin-neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus.
The Journal of clinical endocrinology and metabolism - 1 Jun 1996
Repaske D R, Summar M L, Krishnamani M R, Gültekin E K, Arriazu M C, Roubicek M E, Blanco M, Isaac G B, Phillips J A
Abstract excerpt
We examined the nucleotide sequence of the arginine vasopressin-neurophysin II gene in three kindreds with autosomal dominant neurohypophyseal diabetes insipidus. Each of the three different mutations identified represents a recurrence of a mutation previously described to cause this disease. These mutations are all transitions (C1761-->T, G1859-->A, and G279-->A) that encode amino acid substitutions Pro24-->Leu,...
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