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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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Detalles Bibliográficos
Publicado en:EMBO J
Principais autores: Bahnsen, U, Oosting, P, Swaab, D F, Nahke, P, Richter, D, Schmale, H
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 1992
Assuntos:
Acceso en liña: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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