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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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| 出版年: | Mol Genet Metab |
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| 主要な著者: | , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2018
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| 主題: | |
| オンライン･アクセス: | 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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