The disorder is caused by a premature stop codon (p.R387X), and is characterized by elevated prorenin plasma levels, which pathophysiological consequences are yet to be determined.
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| 1. |
van Hooft IM et al. (1991) Renal hemodynamics and the renin-angiotensin-aldosterone system in normotensive subjects with hypertensive and normotensive parents.
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| 2. |
Villard E et al. (1994) A mutant renin gene in familial elevation of prorenin.
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| 3. |
OMIM.ORG article Omim 179820
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