Single Nucleotide Variations of the Human GR Gene Manifested as Pathologic Mutations or Polymorphisms.

Abstract excerpt

The human genome contains numerous single nucleotide variations, and the human glucocorticoid receptor (GR) gene harbors ∼450 of these genetic changes. Among them, extremely rare, nonsynonymous variants, known as pathologic GR gene mutations, develop a characteristic pathologic condition, familial/sporadic generalized glucocorticoid resistance syndrome, by replacing the amino acids critical for GR protein...

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