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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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Detalhes bibliográficos
Publicado no:Physiol Rep
Main Authors: Boiko, Nina, Kucher, Volodymyr, Stockand, James D
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Ltd 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4673630/
https://ncbi.nlm.nih.gov/pubmed/26537344
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.14814/phy2.12600
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