Article
Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus.
Journal of the American Society of Nephrology : JASN - 1 Jun 2000
Arthus Marie-Françoise, Lonergan Michèle, Crumley M Joyce, Naumova Anna K, Morin Denis, DE Marco Luiz A, Kaplan Bernard S, Robertson Gary L, Sasaki Sei, Morgan Kenneth, Bichet Daniel G, Fujiwara T Mary
Abstract excerpt
X-linked nephrogenic diabetes insipidus (NDI) is a rare disease caused by mutations in the arginine vasopressin receptor 2 gene (AVPR2). Thirty-three novel AVPR2 mutations were identified in 62 families that were not included in our previous studies. This study describes the diversity of mutations observed in a total of 117 families, the number of affected people at the time of diagnosis, skewed X chromosome...
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