A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.
case_report · Level V
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- Record sourced from PubMed, PMID 7608290.
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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.
Medical subject headings
- Hydroxysteroid Dehydrogenases
- Isoenzymes
- Metabolism, Inborn Errors
- Mineralocorticoids
- Point Mutation