A Novel Point Mutation in the Ligand-Binding Domain of the Human Glucocorticoid Receptor Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus in Conferring Transactivational Activity

    Evangelia Charmandari, Annaswamy Raji, Tomoshige Kino, Takamasa Ichijo, Anatoly Tiulpakov, Keith Zachman, George P. Chrousos
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    Studysummary In this study, a novel mutation in the glucocorticoid receptor gene was identified in a young woman, impairing glucocorticoid signaling and leading to generalized glucocorticoid resistance.
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