A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess
Journal Article
·
· Journal of Clinical Endocrinology and Metabolism
- New York Hospital-Cornell Medical Center, NY (United States); and others
A mutation in the HSD11B2 gene has been discovered in a consanguineous Iranian family with three sibs suffering from Apparent Mineralocorticoid Excess (AME). Sequence data demonstrate a C to T transition resulting in an R337C mutation. 9 refs., 2 figs., 3 tabs.
- OSTI ID:
- 241010
- Journal Information:
- Journal of Clinical Endocrinology and Metabolism, Journal Name: Journal of Clinical Endocrinology and Metabolism Journal Issue: 7 Vol. 80; ISSN JCEMAZ; ISSN 0021-972X
- Country of Publication:
- United States
- Language:
- English
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