Associated Papers
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 S et al.
Haematologica, 2021
Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria.
Yien YY et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
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