pubmed:abstractText |
To determine the clinical and molecular genetic characterization of two Japanese patients with 17alpha-hydroxylase deficiency, we analysed the 17alpha-hydroxylase/17,20-lyase gene (CYP17). Next, to clarify the mechanism of hypoaldosteronism in 17alpha-hydroxylase deficiency, we analysed the expression of aldosterone synthase (CYP11B2) messenger RNA and sequenced CYP11B2 in these patients.
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pubmed:affiliation |
Second Department of Internal Medicine, School of Medicine, Kanazawa University, Kanazawa, Third Department of Internal Medicine, Fukui Medical School, Fukui and Koseiren Takaoka Hospital, Takaoka, Japan. takeday@mhs.mp.kanazawa-u.ac.jp
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