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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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Bibliografiske detaljer
Udgivet i:EMBO J
Principais autores: Bahnsen, U, Oosting, P, Swaab, D F, Nahke, P, Richter, D, Schmale, H
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 1992
Fag:
Online adgang: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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