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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Hlavní autoři: Bonny, Olivier, Chraibi, Ahmed, Loffing, Jan, Jaeger, Nicole Fowler, Gründer, Stefan, Horisberger, Jean-Daniel, Rossier, Bernard C.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 1999
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC408554/
https://ncbi.nlm.nih.gov/pubmed/10510337
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