Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking

Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a genetic disease first described in 2 unrelated male infants with severe symptomatic hyponatremia. Despite undetectable arginine vasopressin levels, patients have inappropriately concentrated urine resulting in hyponatremia, hypoosmolali...

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Detalhes bibliográficos
Publicado no:Mol Endocrinol
Main Authors: Tiulpakov, Anatoly, White, Carl W., Abhayawardana, Rekhati S., See, Heng B., Chan, Audrey S., Seeber, Ruth M., Heng, Julian I., Dedov, Ivan, Pavlos, Nathan J., Pfleger, Kevin D. G.
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2016
Assuntos:
Original Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4965841/
https://ncbi.nlm.nih.gov/pubmed/27355191
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/me.2016-1002
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