Publication | Open Access

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

BiologyMedicineGeneticsPathogenesisIron OverloadNatural SciencesGenomic MechanismGenetic MechanismMolecular GeneticsGene ExpressionAlas2 Gene LeadC-terminal DeletionsPorphyriasGene Function