Article
Liddle's syndrome: heritable human hypertension caused by mutations in the beta subunit of the epithelial sodium channel.
Cell - 4 Nov 1994
Shimkets R A, Warnock D G, Bositis C M, Nelson-Williams C, Hansson J H, Schambelan M, Gill J R, Ulick S, Milora R V, Findling J W
Abstract excerpt
Liddle's syndrome (pseudoaldosteronism) is an autosomal dominant form of human hypertension characterized by a constellation of findings suggesting constitutive activation of the amiloride-sensitive distal renal epithelial sodium channel. We demonstrate complete linkage of the gene encoding the b...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 16
- Codon, Terminator
- Epithelium
- Female
- Genetic Linkage
- Genetic Markers
- Humans
- Hyperaldosteronism
- Hypertension
- Male
- Molecular Sequence Data
- Mutation