Schematic of the study workflow (IMAGE)
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Amiloride-sensitive Na+ currents is increased in Xenopus oocytes expressing mutant ENaCs (c.1691_1693delinsG) compared with those expressing wild-type ENaCs. Patients treated with a combination of amiloride with hydrochlorothiazide were followed up for 12 months, and the blood pressure and serum potassium were well controlled in all 7 patients of this family.
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