Article
Mutations and variants of the epithelial sodium channel gene in Liddle's syndrome and primary hypertension.
Hypertension (Dallas, Tex. : 1979) - 1 May 1998
Melander O, Orho M, Fagerudd J, Bengtsson K, Groop P H, Mattiasson I, Groop L, Hulthén U L
Abstract excerpt
Liddle's syndrome is a rare monogenic form of hypertension caused by truncating or missense mutations in the C termini of the epithelial sodium channel beta- or gamma-subunits. These mutations delete or alter a conserved proline-rich amino acid sequence referred to as the PY-motif. We report here...
Topics
- Adult
- Aged
- Amino Acid Sequence
- Base Sequence
- Blood Pressure
- Epithelial Cells
- Female
- Genetic Linkage
- Genome, Human
- Humans
- Hypertension
- Male
- Middle Aged
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Genetic
- Sodium Channels