Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics
Link
http://www.nature.com/articles/ng0798_279.pdf
Reference24 articles.
1. Kuhnle, U. Pseudohypoaldosteronism: mutation found, problem solved? Mol. Cell. Endocrinol. 133, 77–80 (1997).
2. Chang, S.S. et al. Mutations in subunits of the epithelial sodium channel cause salt-wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nature Genet. 12, 248–253 ( 1996).
3. Strautnieks, S.S., Thompson, R.J., Gardiner, R.M. & Chung, E. A novel splice-site mutation in the gamma subunit of the epithelial sodium channel gene in three pseudohypoaldosteronism type I families. Nature Genet. 13, 248–250 (1996).
4. Grunder, S. & Rossier, B. A reappraisal of aldosterone effects on the kidney: new insights provided by epithelial sodium channel cloning . Curr. Opin. Nephrol. Hypertens. 6, 35– 39 (1997).
5. Beato, M. Gene regulation by steroid hormones. Cell 56, 335– 344 (1989).
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