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- Title
Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.
- Authors
Edelheit, Oded; Hanukoglu, Israel; Gizewska, Maria; Kandemir, Nurgun; Tenenbaum-Rakover, Yardena; Yurdakök, Murat; Zajaczek, Stanislaw; Hanukoglu, Aaron
- Abstract
Multisystem pseudohypoaldosteronism (PHA) is a rare autosomal recessive aldosterone unresponsiveness syndrome that results from mutations in the genes encoding epithelial sodium channel (ENaC) subunits alpha, beta and gamma. In this study we examined three PHA patients to identify mutations responsible for PHA with different clinical presentations.
- Publication
Clinical endocrinology, 2005, Vol 62, Issue 5, p547
- ISSN
0300-0664
- Publication type
Journal Article
- DOI
10.1111/j.1365-2265.2005.02255.x