Associated Papers
Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy.
Blouin JM et al.
Molecular Genetics and Metabolism Reports, 2021
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.
Blouin JM et al.
Human Molecular Genetics, 2017
Advances in understanding the pathogenesis of congenital erythropoietic porphyria.
Di Pierro E et al.
British Journal of Haematology, 2016
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