Article
Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.
Proceedings of the National Academy of Sciences of the United States of America - 30 Aug 1994
Friedman E, Bale A E, Carson E, Boson W L, Nordenskjöld M, Ritzén M, Ferreira P C, Jammal A, De Marco L
Abstract excerpt
Nephrogenic diabetes insipidus is a rare hereditary disorder, most commonly transmitted in an X chromosome-linked recessive manner and characterized by the lack of renal response to the action of antidiuretic hormone [Arg8]vasopressin. The vasopressin type 2 receptor (V2R) has been suggested to be the gene that causes the disease, and its role in disease pathogenesis is supported by mutations within this gene in...
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