Associated Papers
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
Dickey AK et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Iron availability modulates aberrant splicing of ferrochelatase through the iron- and 2-oxoglutarate dependent dioxygenase Jmjd6 and U2AF(65.).
Barman-Aksözen J et al.
Blood Cells, Molecules & Diseases, 2013
Four novel mutations of the coproporphyrinogen III oxidase gene.
Aurizi C et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2009
Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.
Aurizi C et al.
Molecular Genetics and Metabolism, 2007
Ferrochelatase consisting of wild-type and mutated subunits from patients with a dominant-inherited disease, erythropoietic protoporphyria, is an active but unstable dimer.
Ohgari Y et al.
Human Molecular Genetics, 2005
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