Steroid 11-beta-Hydroxylase
Mutationen dieses wichtigen Enzyms der Steroidhormonsynthese führen zur hypertensiven Form der adrenalen Hyperplasie. Eine seltene an diesem Locus entdeckte Genveränderung bedingt eine mit Glukokortikoiden behandelbare Form des Hypertonus.
Genetests:
Related Diseases:
References:
| 1. |
Mulatero P et al. (2004) Genetics of primary aldosteronism.
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| 2. |
Lifton RP et al. (1992) A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension.
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| 3. |
White PC et al. (1991) A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.
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