Article
Exclusion of the locus for autosomal recessive pseudohypoaldosteronism type 1 from the mineralocorticoid receptor gene region on human chromosome 4q by linkage analysis.
The Journal of clinical endocrinology and metabolism - 1 Nov 1995
Chung E, Hanukoglu A, Rees M, Thompson R, Dillon M, Hanukoglu I, Bistritzer T, Kuhnle U, Seckl J, Gardiner R M
Abstract excerpt
Pseudohypoaldosteronism type 1 (PHA1) is an uncommon inherited disorder characterized by salt-wasting in infancy arising from target organ unresponsiveness to mineralocorticoids. Clinical expression of the disease varies from severely affected infants who may die to apparently asymptomatic individuals. Inheritance is Mendelian and may be either autosomal dominant or autosomal recessive. A defect in the...
Topics
- Alleles
- Chromosome Mapping
- Chromosomes, Human, Pair 4
- Genes, Recessive
- Genetic Linkage
- Homozygote
- Humans
- Pedigree
- Pseudohypoaldosteronism
- Receptors, Mineralocorticoid