Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess.

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

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.

Affiliation

Nunez BS; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Tex 75235-9063, USA.

Hypertension ; 34(4 Pt 1): 638-42, 1999 Oct.

Article in En | MEDLINE | ID: mdl-10523339

Subject(s)

Hydroxysteroid Dehydrogenases/genetics; Mineralocorticoids/metabolism; Mutation; 11-beta-Hydroxysteroid Dehydrogenases; Adolescent; Blood Pressure; Child, Preschool; Chromosomes, Human, Pair 16; Exons; Female; Genotype; Humans; Hydrocortisone/metabolism; Hydroxysteroid Dehydrogenases/metabolism; Hypertension/genetics; Hypertension/metabolism; Infant; Isoenzymes/genetics; Isoenzymes/metabolism; Male; Mineralocorticoids/genetics; Phenotype; Polymerase Chain Reaction

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Collection: 01-internacional Database: MEDLINE Main subject: Hydroxysteroid Dehydrogenases / Mineralocorticoids / Mutation Limits: Adolescent / Child, preschool / Female / Humans / Infant / Male Language: En Journal: Hypertension Year: 1999 Document type: Article Affiliation country: United States Country of publication: United States

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