Sequence variants of the ligand-binding domain of the glucocorticoid receptor gene and their functional consequences on the three-dimensional protein structure.

Abstract excerpt

In recent years several mutations and sequence polymorphisms of the glucocorticoid receptor gene have been described. The majority of mutations have been found in patients with a rare endocrinological abnormality, the glucocorticoid resistance syndrome. In addition, some sequence polymorphisms have been considered to contribute to various diseases, but unambiguous correlations have not been established yet. Here...

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