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Case Reports
. 1995 Jul;80(7):2263-6.
doi: 10.1210/jcem.80.7.7608290.

A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess

R C Wilson  1 , Z S Krozowski, K Li, V R Obeyesekere, M Razzaghy-Azar, M D Harbison, J Q Wei, C H Shackleton, J W Funder, M I New
Affiliations
Case Reports

A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess

R C Wilson et al. J Clin Endocrinol Metab. 1995 Jul.

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.

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