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

Publication date: June 2021Source: Molecular Genetics and Metabolism Reports, Volume 27Author(s): 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
Source: Molecular Genetics and Metabolism Reports - Category: Genetics & Stem Cells Source Type: research