Article
A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel.
The Journal of clinical endocrinology and metabolism - 1 Jun 1998
Inoue J, Iwaoka T, Tokunaga H, Takamune K, Naomi S, Araki M, Takahama K, Yamaguchi K, Tomita K
Abstract excerpt
Liddle's syndrome is an autosomal dominant form of salt sensitive hypertension caused by mutations in the beta or gamma subunit of the epithelial sodium channel. Systematic mutagenesis studies revealed that a conserved PPPXY sequence (PY motif) of the C-terminus of the alpha, beta, or gamma subun...
Topics
- Adult
- Alleles
- Base Sequence
- Codon
- DNA
- Epithelium
- Female
- Humans
- Hypertension
- Male
- Mutagenesis
- Pedigree
- Point Mutation
- Polymerase Chain Reaction
- Proline
- Sequence Analysis, DNA
- Serine
- Sodium Channels