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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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Autores principales: Nader, Nancy, Bachrach, Bert E., Hurt, Darrell E., Gajula, Sonia, Pittman, Amy, Lescher, Rachel, Kino, Tomoshige
Formato: Artigo
Lenguaje:Inglês
Publicado: The Endocrine Society 2010
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Acceso en línea: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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