A novel AVP gene mutation in a Turkish family with neurohypophyseal diabetes insipidus

Purpose Familial neurohypophyseal diabetes insipidus (FNDI) is a rare, autosomal dominant, inherited disorder which is characterized by severe polydipsia and polyuria generally presenting in early childhood. In the present study, we aimed to analyze the AVP gene in a Turkish family with FNDI. Method...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of endocrinological investigation 2016-03, Vol.39 (3), p.285-290
Hauptverfasser:	Ilhan, M., Tiryakioglu, N. O., Karaman, O., Coskunpinar, E., Yildiz, R. S., Turgut, S., Tiryakioglu, D., Toprak, H., Tasan, E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Case-Control Studies Diabetes Insipidus, Neurogenic - diagnosis Diabetes Insipidus, Neurogenic - genetics Endocrinology Family Female Follow-Up Studies Humans Male Medicine Medicine & Public Health Metabolic Diseases Middle Aged Mutation - genetics Neurophysins - genetics Original Article Pedigree Prognosis Protein Precursors - genetics Turkey Vasopressins - genetics Young Adult
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!