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ea0013p267 | Steroids | SFEBES2007

Identification of a novel, point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor-α (hGRα) gene and molecular characterization of the mutant receptor hGRαF737L

Charmandari Evangelia , Kino Tomoshige , Ichijo Takamasa , Zachman Keith , Chrousos George

Background: Generalized glucocorticoid resistance is a rare condition characterized by partial, end-organ insensitivity to glucocorticoids, compensatory elevations in ACTH and cortisol secretion, and increased production of adrenal steroids with androgenic and/or mineralocorticoid activity. We identified a new case of glucocorticoid resistance caused by a novel, heterozygous point mutation at nucleotide position 2209 (T → C) of the hGRα gene, resulting in phenylalan...

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Endocrine Abstracts

Identification of a novel, point mutation in helix 11 of the ligand-binding domain of the human glucocorticoid receptor-α (hGRα) gene and molecular characterization of the mutant receptor hGRαF737L

BiosciAbstracts