Characterization of Two Novel Missense Mutations in the <i>AQP2 </i>Gene Causing Nephrogenic Diabetes Insipidus-Reference-Cited by-同舟云学术

Characterization of Two Novel Missense Mutations in the AQP2 Gene Causing Nephrogenic Diabetes Insipidus

Published:2006-12-28 Issue:3 Volume:105 Page:p33-p41
ISSN:1660-2137
Container-title:Nephron Physiology
language:en
Short-container-title:Nephron Physiol

Author:

Iolascon Achille,Aglio Veruska,Tamma Grazia,D’Apolito Maria,Addabbo Francesco,Procino Giuseppe,Simonetti Maria Carmela,Montini Giovanni,Gesualdo Loreto,Debler Erik W.,Svelto Maria,Valenti Giovanna

Publisher

S. Karger AG

Subject

Physiology (medical),Nephrology,General Medicine,Physiology

Reference33 articles.

1. Nephrogenic Diabetes Insipidus

2. Molecular Biology of Hereditary Diabetes Insipidus

3. Report of 33 NovelAVPR2Mutations and Analysis of 117 Families with X-Linked Nephrogenic Diabetes Insipidus

4. Water channels encoded by mutant aquaporin-2 genes in nephrogenic diabetes insipidus are impaired in their cellular routing.

5. New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels.

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