A mutation in the iron-responsive element of <i>ALAS2</i> is a modifier of disease severity in a patient suffering from <i>CLPX</i> associated erythropoietic protoporphyria
Sarah Ducamp, Sara Luscieti, Xènia Ferrer-Cortés, Gaël Nicolas, Hana Manceau, Katell Peoc’h, Yvette Y. Yien, Caroline Kannengiesser, Laurent Gouya, Hervé Puy, Mayka Sánchez
Abstract
The proband (III:2) was examined twice: first at the initial visit associated with iron deficiency and one year later after oral iron supplementation.PPIX: protoporphyrin IX; ZnPP:
Topics & Concepts
DiseaseMutationInternal medicineGeneticsMedicineBiologyGenePorphyrin Metabolism and DisordersHeme Oxygenase-1 and Carbon MonoxideFolate and B Vitamins Research