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A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess
R C Wilson1, Z S Krozowski, K Li
1Department of Pediatrics, New York Hospital-Cornell Medical Center, New York 10021, USA.
The Journal of Clinical Endocrinology and Metabolism
|July 1, 1995
Abstract:
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.