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Characterization of Variegate Porphyria Mutations Using a Minigene Approach
Porphyrias are a group of metabolic diseases that affect the skin and/or nervous system. In 2008, three unrelated patients were diagnosed with variegate porphyria at the CIPYP (Centro de Investigaciones sobre Porfirinas y Porfirias). Sequencing of the protoporphyrinogen oxidase gene, the gene altere...
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| Publicado en: | JIMD Rep |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Springer Berlin Heidelberg
2015
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4375119/ https://ncbi.nlm.nih.gov/pubmed/25638459 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_388 |
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