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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Detaylı Bibliyografya
Asıl Yazarlar: Wang, Jian, Yu, Tingting, Yin, Lei, Li, Jing, Yu, Li, Shen, Ye, Yu, Yongguo, Shen, Yongnian, Fu, Qihua
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2013
Konular:
Research Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3675083/
https://ncbi.nlm.nih.gov/pubmed/23762408
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0065676
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