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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Detalhes bibliográficos
Main Authors: Nader, Nancy, Bachrach, Bert E., Hurt, Darrell E., Gajula, Sonia, Pittman, Amy, Lescher, Rachel, Kino, Tomoshige
Formato: Artigo
Idioma:Inglês
Publicado em: The Endocrine Society 2010
Assuntos:
Brief Report
Acesso em linha: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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