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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Exp Ther Med
Prif Awduron: Yang, Hongbo, Yan, Kemin, Wang, Linjie, Gong, Fengying, Jin, Zimeng, Zhu, Huijuan
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: D.A. Spandidos 2019
Pynciau:
Mynediad Ar-lein: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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