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

Elena Di Pierro, Maria Domenica Cappellini, Renata Mazzucchelli, Valeria Moriondo, Daniela Mologni, Barbara Zanone Poma, Agostino Riva

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Medicine & Life Sciences