Article
Liddle's disease: abnormal regulation of amiloride-sensitive Na+ channels by beta-subunit mutation.
The American journal of physiology - 1 Jan 1996
Bubien J K, Ismailov I I, Berdiev B K, Cornwell T, Lifton R P, Fuller C M, Achard J M, Benos D J, Warnock D G
Abstract excerpt
Liddle's disease is an autosomal dominant genetic disorder characterized by severe low renin hypertension ("pseudoaldosteronism") that has been genetically linked to a locus on chromosome 16 encoding the beta-subunit of an amiloride-sensitive Na+ channel (ASSC) (15). Peripheral blood lymphocytes (PBL) express ASSC that are functionally indistinguishable from those expressed by Na(+)-reabsorbing renal epithelial...
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