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A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess.
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1995
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R337c MutationMendelian DisorderT TransitionApparent Mineralocorticoid ExcessGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic EpidemiologyPathologyMolecular BiologyMolecular GeneticsMedical GeneticsDisease Gene IdentificationGenomicsMedicineHsd11b2 Gene
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.