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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Hlavní autoři: To-Figueras, J., Phillips, J., Gonzalez-López, J.M., Badenas, C., Madrigal, I., González-Romarís, E.M., Ramos, C., Aguirre, J.M., Herrero, C.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
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Article
On-line přístup: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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