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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Dominant-negative diabetes insipidus and other endocrinopathies.

Familial neurohypophyseal diabetes insipidus (FNDI) in humans is an autosomal dominant disorder caused by a variety of mutations in the arginine vasopressin ( AVP) precursor. A new report demonstrates how heterozygosity for an AVP mutation causes FNDI (see the related article beginning on page 1697). Using an AVP knock-in mutation in mice, the study shows that FNDI is caused by retention of AVP precursors and progressive loss of AVP-producing neurons.[1]


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