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Congenital Erythropoietic Porphyria: Recent Advances
Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder characterized by photosensitivity and by hematologic abnormalities in affected individuals. CEP is caused by mutations in the uroporphyrinogen synthase (UROS) gene. In three reported cases, CEP has been associated with...
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| Publicat a: | Mol Genet Metab |
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| Autors principals: | , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6597325/ https://ncbi.nlm.nih.gov/pubmed/30685241 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2018.12.008 |
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