Article
A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.
Proceedings of the National Academy of Sciences of the United States of America - 5 Dec 1995
Hansson J H, Schild L, Lu Y, Wilson T A, Gautschi I, Shimkets R, Nelson-Williams C, Rossier B C, Lifton R P
Abstract excerpt
Liddle syndrome is a mendelian form of hypertension characterized by constitutively elevated renal Na reabsorption that can result from activating mutations in the beta or gamma subunit of the epithelial Na channel. All reported mutations have deleted the last 45-76 normal amino acids from the cytoplasmic C terminus of one of these channel subunits. While these findings implicate these terminal segments in the...
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