| Predicate | Object |
|---|---|
| rdf:type | |
| entrezgene:geneRifText |
The novel mutation S562P is causing systemic pseudohypoaldosteronism type I in the homozygous state. Heterozygote SCNN1A mutation carriers revealed increased sweat sodium and chloride levels consistent with a dominant effect of the mutant S562P allele.
|