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9. Functional polymorphisms in the mineralocorticoid receptor and amirolide-sensitive sodium channel genes in a patient with sporadic pseudohypoaldosteronism. Arai K, Nakagomi Y, Iketani M, Shimura Y, Amemiya S, Ohyama K, Shibasaki T. Hum Genet; 2003 Jan; 112(1):91-7. PubMed ID: 12483305 [Abstract] [Full Text] [Related]
12. [Genetic disorders caused by gain or loss of function of the mineralocorticoid receptor]. Arai K, Shibasaki T. Nihon Rinsho; 2002 Feb; 60(2):361-6. PubMed ID: 11857927 [Abstract] [Full Text] [Related]
15. Evidence for genetic heterogeneity of pseudohypoaldosteronism type 1: identification of a novel mutation in the human mineralocorticoid receptor in one sporadic case and no mutations in two autosomal dominant kindreds. Viemann M, Peter M, López-Siguero JP, Simic-Schleicher G, Sippell WG. J Clin Endocrinol Metab; 2001 May; 86(5):2056-9. PubMed ID: 11344206 [Abstract] [Full Text] [Related]
18. Recurrence of the R947X mutation in unrelated families with autosomal dominant pseudohypoaldosteronism type 1: evidence for a mutational hot spot in the mineralocorticoid receptor gene. Fernandes-Rosa FL, de Castro M, Latronico AC, Sippell WG, Riepe FG, Antonini SR. J Clin Endocrinol Metab; 2006 Sep 15; 91(9):3671-5. PubMed ID: 16757525 [Abstract] [Full Text] [Related]