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A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus.

Familial neurohypophyseal diabetes insipidus in humans is a rare disease transmitted as an autosomal dominant trait. Affected individuals have very low or undetectable levels of circulating vasopressin and suffer from polydipsia and polyuria. An obvious candidate gene for the disease is the vasopres...

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Dettagli Bibliografici
Pubblicato in:EMBO J
Autori principali: Bahnsen, U, Oosting, P, Swaab, D F, Nahke, P, Richter, D, Schmale, H
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 1992
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Accesso online:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC556420/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1740104/
https://ncbi.nlm.nih.govhttps://doi.org/10.1002/j.1460-2075.1992.tb05022.x
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