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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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Bibliografiske detaljer
Udgivet i:J Clin Invest
Hovedforfatter: Phillips, John A.
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2003
Fag:
Online adgang:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC281655/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/14660740/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI20441
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