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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Bibliographic Details
Main Authors: Nader, Nancy, Bachrach, Bert E., Hurt, Darrell E., Gajula, Sonia, Pittman, Amy, Lescher, Rachel, Kino, Tomoshige
Format: Artigo
Language:Inglês
Published: The Endocrine Society 2010
Subjects:
Brief Report
Online Access: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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