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Pseudohypoaldosteronism type 1 due to novel variants of SCNN1B gene

Autosomal recessive pseudohypoaldosteronism type 1 (PHA1) is a rare disorder characterized by sodium wasting, failure to thrive, hyperkalemia, hypovolemia and metabolic acidosis. It is due to mutations in the amiloride-sensitive epithelial sodium channel (ENaC) and is characterized by diminished res...

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Detalles Bibliográficos
Autores principales:	Nobel, Yael R, Lodish, Maya B, Raygada, Margarita, Del Rivero, Jaydira, Faucz, Fabio R, Abraham, Smita B, Lyssikatos, Charalampos, Belyavskaya, Elena, Stratakis, Constantine A, Zilbermint, Mihail
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bioscientifica Ltd 2016
Materias:	Insight into Disease Pathogenesis or Mechanism of Therapy
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722246/ https://www.ncbi.nlm.nih.gov/pubmed/26807262 http://dx.doi.org/10.1530/EDM-15-0104

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