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Functional expression of a pseudohypoaldosteronism type I mutated epithelial Na(+) channel lacking the pore-forming region of its α subunit
The autosomal recessive form of type I pseudohypoaldosteronism (PHA-I) is an inherited salt-losing syndrome resulting from diminution-of-function mutations in the 3 subunits of the epithelial Na(+) channel (ENaC). A PHA-I stop mutation (α(R508stop)) of the ENaC α subunit is predicted to lack the sec...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
American Society for Clinical Investigation
1999
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC408554/ https://ncbi.nlm.nih.gov/pubmed/10510337 |
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