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Mutations causing Liddle syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system.

Liddle syndrome is an autosomal dominant form of hypertension resulting from deletion or missense mutations of a PPPxY motif in the cytoplasmic COOH terminus of either the beta or gamma subunit of the epithelial Na channel (ENaC). These mutations lead to increased channel activity. In this study we...

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Hlavní autoři: Kellenberger, S, Gautschi, I, Rossier, B C, Schild, L
Médium: Artigo
Jazyk:Inglês
Vydáno: 1998
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC508865/
https://ncbi.nlm.nih.gov/pubmed/9637708
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