Article
A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type 1 families.
Nature genetics - 1 Jun 1996
Strautnieks S S, Thompson R J, Gardiner R M, Chung E
Abstract excerpt
Pseudohypoaldosteronism type 1 (PHA1, OMIM 264350) is an uncommon inherited disorder characterized by salt-wasting and end-organ unresponsiveness to mineralocorticoids. A complete genome search using homozygosity mapping in eleven consanguineous families with PHA1 provided conclusive evidence of...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosomes, Human, Pair 16
- Conserved Sequence
- Epithelial Sodium Channels
- Genetic Linkage
- Humans
- Molecular Sequence Data
- Mutation
- Pseudohypoaldosteronism
- RNA Splicing
- Sequence Homology, Amino Acid
- Sodium Channels