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Cortisone-reductase deficiency associated with heterozygous mutations in 11β-hydroxysteroid dehydrogenase type 1

In peripheral target tissues, levels of active glucocorticoid hormones are controlled by 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1), a dimeric enzyme that catalyzes the reduction of cortisone to cortisol within the endoplasmic reticulum. Loss of this activity results in a disorder termed cor...

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Détails bibliographiques
Auteurs principaux: Lawson, Alexander J., Walker, Elizabeth A., Lavery, Gareth G., Bujalska, Iwona J., Hughes, Beverly, Arlt, Wiebke, Stewart, Paul M., Ride, Jonathan P.
Format: Artigo
Langue:Inglês
Publié: National Academy of Sciences 2011
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3054023/
https://ncbi.nlm.nih.gov/pubmed/21325058
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1014934108
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