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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)....

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Autor principal: Phillips, John A.
Format: Artigo
Idioma:Inglês
Publicat: American Society for Clinical Investigation 2003
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC281655/
https://ncbi.nlm.nih.gov/pubmed/14660740
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200320441
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