Characterization of a novel pathogenic variant in the FECH gene associated with erythropoietic protoporphyria

por Kieke, Michele C., Klemm, Jacob, Tondin, Arthur Rech, Alencar, Victor, Johnson, Nathan, Driver, Ashley M., Lentz, Thomas, Fischer, Gregory J., Caporale, Diane A., Drury, Luke J.
Publicado 2019