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pro vyhledávání: '"Paul-Martin Holterhus"'
Autor:
Paul-Martin Holterhus, Felix G. Riepe
Publikováno v:
American Journal of Nephrology. 27:164-169
Objective: Autosomal-dominant pseudohypoaldosteronism type 1 (PHA1) is mostly caused by mutations in the mineralocorticoid receptor (NR3C2) gene. However, several kindreds with clinical signs of PHA1 but without NR3C2 gene mutations or deletions are