A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.
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Wilson RC, Krozowski ZS, Li K, Obeyesekere VR, Razzaghy-Azar M, Harbison MD, Wei JQ, Shackleton CH, Funder JW, New MI
A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.
J Clin Endocrinol Metab. 1995 Jul;80(7):2263-6.
- PubMed ID
- 7608290 [ View in PubMed]
- 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.