Article
Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess.
Hypertension (Dallas, Tex. : 1979) - 1 Oct 1999
Nunez B S, Rogerson F M, Mune T, Igarashi Y, Nakagawa Y, Phillipov G, Moudgil A, Travis L B, Palermo M, Shackleton C, White P C
Abstract excerpt
Mutations in the kidney isozyme of human 11-hydroxysteroid dehydrogenase (11-HSD2) cause apparent mineralocorticoid excess, an autosomal recessive form of familial hypertension. We studied 4 patients with AME, identifying 4 novel and 3 previously reported mutations in the HSD11B2 (HSD11K) gene. Point mutations causing amino acid substitutions were introduced into a pCMV5/11HSD2 expression construct and expressed...
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