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Pseudohypoaldosteronism type 1 and Liddle’s syndrome mutations that affect the single-channel properties of the epithelial Na(+) channel

These studies test whether three disease-causing mutations in genes (SCNN1A and SCNN1G) encoding subunits of the epithelial Na(+) channel, ENaC, affect the biophysical and gating properties of this important renal ion channel. The S562P missense mutation in αENaC and the K106_S108delinsN mutation in...

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Detalles Bibliográficos
Autores principales:	Boiko, Nina, Kucher, Volodymyr, Stockand, James D
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley & Sons, Ltd 2015
Materias:	Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4673630/ https://www.ncbi.nlm.nih.gov/pubmed/26537344 http://dx.doi.org/10.14814/phy2.12600

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