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Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a novel nonsense mutation in AVP-NPII gene

Familial neurohypophyseal diabetes insipidus (FNDI) is a rare single-gene disorder caused by mutations of the arginine vasopressin-neurophysin II (AVP-NPII) gene. These changes impair the release of vasopressin from the posterior pituitary gland. In the present study, the AVP-NPII gene of a Chinese...

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Detalles Bibliográficos
Publicado en:Exp Ther Med
Main Authors: Yang, Hongbo, Yan, Kemin, Wang, Linjie, Gong, Fengying, Jin, Zimeng, Zhu, Huijuan
Formato: Artigo
Idioma:Inglês
Publicado: D.A. Spandidos 2019
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6601387/
https://ncbi.nlm.nih.gov/pubmed/31316622
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/etm.2019.7645
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