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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2019
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Materias: | |
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 |