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.

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Published in Proc Natl Acad Sci U S A on December 05, 1995

Authors

J H Hansson1, L Schild, Y Lu, T A Wilson, I Gautschi, R Shimkets, C Nelson-Williams, B C Rossier, R P Lifton

Author Affiliations

1: Howard Hughes Medical Institute, Yale University School of Medicine, New Haven, CT 06536-0812, USA.

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