New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes

Eitemau Tebyg

• Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus—update and epidemiology
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  Cyhoeddwyd: (2012)
• Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype
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  Cyhoeddwyd: (2009)
• Further evidence for functional recovery of AQP2 mutations associated with nephrogenic diabetes insipidus
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  Cyhoeddwyd: (2021)
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• An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.
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