Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase.

doi:10.1038/ng0895-394

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Article

Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase.

Nature genetics - 1 Aug 1995

Mune T, Rogerson F M, Nikkilä H, Agarwal A K, White P C

Abstract excerpt

The syndrome of apparent mineralocorticoid excess (AME) is an inherited form of human hypertension thought to result from a deficiency of 11 beta-hydroxysteroid dehydrogenase (11 beta HSD). This enzyme normally converts cortisol to inactive cortisone and is postulated to thus confer specificity f...

Topics

11-beta-Hydroxysteroid Dehydrogenases
Adolescent
Adult
Base Sequence
Child
Child, Preschool
DNA Primers
Female
Humans
Hydroxysteroid Dehydrogenases
Hypertension
Infant
Infant, Low Birth Weight
Infant, Newborn
Isoenzymes
Kidney
Male
Mineralocorticoids

Source

Open in PubMed

Identifiers

PMID: 7670488
DOI: 10.1038/ng0895-394

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7670488-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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