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...
Topics
- Aldosterone
- Alleles
- Amino Acid Sequence
- Base Sequence
- Blood Pressure
- Chromosome Mapping
- Chromosomes, Human, Pair 16
- Cytosine
- Female
- Frameshift Mutation
- Humans
- Hyperaldosteronism
- Hypertension
- Kidney
- Macromolecular Substances
- Male
- Nuclear Family
- Pedigree