Article
KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn's syndrome.
Endocrine-related cancer - 1 Jun 2012
Xekouki Paraskevi, Hatch Michael M, Lin Lin, Rodrigo De Alexandre, Azevedo Monalisa, de la Luz Sierra Maria, Levy Isaac, Saloustros Emmanouil, Moraitis Andreas, Horvath Anelia, Kebebew E, Hoffman Dax A, Stratakis Constantine A
Abstract excerpt
KCNJ5 mutations were recently described in primary hyperaldosteronism (PH or Conn's syndrome). The frequency of these mutations in PH and the way KCNJ5 defects cause disease remain unknown. A total of 53 patients with PH have been seen at the National Institutes of Health over the last 12 years. Their peripheral and tumor DNAs (the latter from 16 that were operated) were screened for KCNJ5 mutations; functional...
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