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Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene
BACKGROUND: Hepatoerythropoietic porphyria (HEP) is a rare form of porphyria that results from a deficiency of uroporphyrinogen decarboxylase (UROD). The disease is caused by homoallelism or heteroallelism for mutations in the UROD gene. OBJECTIVE: To study a 19 year-old woman from Equatorial Guinea...
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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3818800/ https://ncbi.nlm.nih.gov/pubmed/21668429 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1365-2133.2011.10453.x |
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