Article
The diagnosis of Liddle syndrome by identification of a mutation in the beta subunit of the epithelial sodium channel.
Journal of medical genetics - 1 Jun 1998
Jackson S N, Williams B, Houtman P, Trembath R C
Abstract excerpt
Hypertension is a common multifactorial disorder associated with considerable morbidity and mortality. The kidney plays a major role in the long term regulation of blood pressure. Liddle syndrome (pseudo-hyperaldosteronism) is one of a number of monogenic disorders of salt and water transport. In a kindred with at least four affected members suffering from Liddle syndrome, we confirmed by direct DNA sequencing...
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