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A point mutation affecting an SP1 binding site in the promoter of the ferrochelatase gene impairs gene transcription and causes erythropoietic protoporphyria

BiologyTranscriptional RegulationNatural SciencesGeneticsGene RegulationPoint MutationGenetic MechanismGene CharacterizationMolecular GeneticsSp1 Binding SiteHeme SignalingGene ExpressionMedicineErythropoietic ProtoporphyriaPorphyriasGene Function