Article
A novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus.
The Journal of clinical endocrinology and metabolism - 1 Apr 2004
Wahlstrom Justin T, Fowler Michael J, Nicholson Wendell E, Kovacs William J
Abstract excerpt
Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) is a defect in free water conservation caused by mutations in the single gene that encodes both vasopressin (VP) and its binding protein, neurophysin II (NP II). Most of the human mutations in this gene have been in the portion encodi...
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