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P450 oxidoreductase

A Novel POR G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile.
  We identified a novel POR gene mutation (G88S) causing one of the most severe forms of P450 oxidoreductase deficiency reported. The mutation disrupts steroid and drug metabolism, producing significant endocrine dysfunction and a “poor metabolizer” phenotype. Its recurrence in Argentine families highlights its relevance as a potential...