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A Novel Point Mutation in Helix 10 of the Human Glucocorticoid Receptor Causes Generalized Glucocorticoid Resistance by Disrupting the Structure of the Ligand-Binding Domain

Context: Generalized glucocorticoid resistance syndrome is a rare familial or sporadic condition characterized by partial insensitivity to glucocorticoids, caused by mutations in the glucocorticoid receptor (GR) gene. Most of the reported cases are adults, demonstrating symptoms associated with mine...

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Bibliografske podrobnosti
Main Authors: Nader, Nancy, Bachrach, Bert E., Hurt, Darrell E., Gajula, Sonia, Pittman, Amy, Lescher, Rachel, Kino, Tomoshige
Format: Artigo
Jezik:Inglês
Izdano: The Endocrine Society 2010
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2869551/
https://ncbi.nlm.nih.gov/pubmed/20335448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2009-2463
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