Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism type 1 (PHA1) is a rare inherited disease characterized by resistance to the actions of aldosterone. Mutations in the subunit genes (SCNN1A, SCNN1B, SCNN1G) of the epithelial sodium channel (ENaC) and the NR3C2 gene encoding the mineralocorticoid receptor, result in systemic...

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Detalles Bibliográficos
Autores principales: Wang, Jian, Yu, Tingting, Yin, Lei, Li, Jing, Yu, Li, Shen, Ye, Yu, Yongguo, Shen, Yongnian, Fu, Qihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3675083/
https://www.ncbi.nlm.nih.gov/pubmed/23762408
http://dx.doi.org/10.1371/journal.pone.0065676

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3675083/
https://www.ncbi.nlm.nih.gov/pubmed/23762408
http://dx.doi.org/10.1371/journal.pone.0065676

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