Browsing Ciències de la Salut by Author "Yien, Yvette Y."
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A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria
Ducamp, Sarah; Luscieti, Sara; Ferrer-Cortès, Xènia; Nicolas, Gaël; Manceau, Hana; Peoc'h, Katell; Yien, Yvette Y.; Kannengiesser, Caroline; Gouya, Laurent; Puy, Herve; Sanchez, Mayka (Haematologica, 2021)Porphyrias are a group of eight genetically distinct disorders, each resulting from a partial deficiency or gain-offunction of a specific enzyme in the heme biosynthetic pathway.1 Porphyrias are inherited ...