Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations

Almost 90% of nephrogenic diabetes insipidus (NDI) is caused by mutations in the arginine vasopressin receptor 2 gene (AVPR2) on the X chromosome. Herein, we reported clinical and biochemical parameters in four cases of three unrelated Japanese families and analyzed the status of the AVPR2. Two of t...

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Bibliografische gegevens
Gepubliceerd in:Case Rep Pediatr
Hoofdauteurs: Namatame-Ohta, Noriko, Morikawa, Shuntaro, Nakamura, Akie, Matsuo, Kumihiro, Nakajima, Masahide, Tomizawa, Kazuhiro, Tanahashi, Yusuke, Tajima, Toshihiro
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Hindawi 2018
Onderwerpen:
Case Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6057286/
https://ncbi.nlm.nih.gov/pubmed/30073107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/6561952
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