Article
Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation.
The Journal of clinical endocrinology and metabolism - 1 Aug 1999
Siggaard C, Rittig S, Corydon T J, Andreasen P H, Jensen T G, Andresen B S, Robertson G L, Gregersen N, Bolund L, Pedersen E B
Abstract excerpt
The autosomal dominant form of familial neurohypophyseal diabetes insipidus (adFNDI) is a rare disease characterized by postnatal onset of polyuria and a deficient neurosecretion of the antidiuretic hormone, arginine vasopressin (AVP). Since 1991, adFNDI has been linked to 31 different mutations of the gene that codes for the vasopressin-neurophysin II (AVP-NPII) precursor. The aims of the present study were to...
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