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

Erythropoietic protoporphyria (EPP) is an autosomal recessive deficiency in heme biosynthesis due to pathogenic variants in the ferrochelatase gene (FECH). Patients present with lifelong photosensitivity and potential liver disease. Here we report a novel FECH variant designated c.904_912+1del found...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6599883/
https://www.ncbi.nlm.nih.gov/pubmed/31304091
http://dx.doi.org/10.1016/j.ymgmr.2019.100481

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