Nature and Recurrence of AVPR2 Mutations in X-linked Nephrogenic Diabetes Insipidus

X-linked nephrogenic diabetes insipidus (NDI) is a rare disease with defective renal and extrarenal arginine-vasopressin V(2) receptor responses due to mutations in the AVPR2 gene in Xq28. We analyzed 31 independent NDI families to determine the nature and recurrence of AVPR2 mutations. Twenty-one n...

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Autors principals: Bichet, Daniel G., Birnbaumer, Mariel, Lonergan, Michèle, Arthus, Marie-Françoise, Rosenthal, Walter, Goodyer, Paul, Nivet, Hubert, Benoit, Stéphane, Giampietro, Philip, Simonetti, Simonetta, Fish, Alfred, Whitley, Chester B., Jaeger, Philippe, Gertner, Joseph, New, Maria, DiBona, Francis J., Kaplan, Bernard S., Robertson, Gary L., Hendy, Geoffrey N., Fujiwara, T. Mary, Morgan, Kenneth
Format: Artigo
Idioma:Inglês
Publicat: 1994
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Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918376/
https://ncbi.nlm.nih.gov/pubmed/8037205
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