A case of aquaporin 2 R85X mutation in a boy with congenital nephrogenic diabetes insipidus

Patients with autosomal nephrogenic diabetes insipidus homozygous for mutations in the aquaporin 2 water-channel gene.

Angenita F. van Lieburg, Marian Verdijk, V.V.A.M. Knoers et al. · PubMed · 1994 · 206 citations

Life Sciences, Genetics, Molecular Genetics +16

Report of 33 Novel AVPR2 Mutations and Analysis of 117 Families with X-Linked Nephrogenic Diabetes Insipidus

M. JOYCE CRUMLEY, Anna K. Naumova, Denis Morin et al. · Journal of the American Society of Nephrology · 2000 · 185 citations

Life Sciences, Genetics, Molecular Genetics +16

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

S.M. Mulders, Nine V.A.M. Knoers, A.F. van Lieburg et al. · Journal of the American Society of Nephrology · 1997 · 176 citations

Life Sciences, Genetics, Physiology +16

Cell-Biologic and Functional Analyses of Five New Aquaporin-2 Missense Mutations that Cause Recessive Nephrogenic Diabetes Insipidus

Nannette Marr, Daniel G. Bichet, Susan Hoefs et al. · Journal of the American Society of Nephrology · 2002 · 120 citations

Life Sciences, Genetics, Molecular Genetics +16

Mutations in the Vasopressin V2 Receptor and Aquaporin-2 Genes in Twelve Families with Congenital Nephrogenic Diabetes Insipidus

Rosa Vargas-Poussou, Lionel Forestier, M D Dautzenberg et al. · Advances in experimental medicine and biology · 1998 · 74 citations

Medicine, Genetics, Nephrology +12