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

    May 2005 in “ The Journal of Clinical Endocrinology & Metabolism ”
    Evangelia Charmandari, Annaswamy Raji, Tomoshige Kino … George P. Chrousos
    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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