Article
Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I.
Nature genetics - 1 Jul 1998
Geller D S, Rodriguez-Soriano J, Vallo Boado A, Schifter S, Bayer M, Chang S S, Lifton R P
Abstract excerpt
Pseudohypoaldosteronism type I (PHA1) is characterized by neonatal renal salt wasting with dehydration, hypotension, hyperkalaemia and metabolic acidosis, despite elevated aldosterone levels. Two forms of PHA1 exist. An autosomal recessive form features severe disease with manifestations persisti...
Topics
- Base Sequence
- DNA, Complementary
- Female
- Frameshift Mutation
- Genes, Dominant
- Genetic Variation
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Polymorphism, Single-Stranded Conformational
- Pseudohypoaldosteronism
- Receptors, Mineralocorticoid