Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy

by Jean-Marc Blouin, Cécile Ged, Ganeko Bernardo-Seisdedos, Txomin Cabantous, Benoît Pinson, Antoine Poli, Hervé Puy, Oscar Millet, Laurent Gouya, Fanny Morice-Picard, Emmanuel Richard
Published 2021-06-01