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Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria

Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disorder characterized by uroporphyrinogen III synthase (UROS) deficiency resulting in massive porphyrin accumulation in blood cells, which is responsible for hemolytic anemia and skin photosensitivity. Among the missense mutati...

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Main Authors: Blouin, Jean-Marc, Duchartre, Yann, Costet, Pierre, Lalanne, Magalie, Ged, Cécile, Lain, Ana, Millet, Oscar, de Verneuil, Hubert, Richard, Emmanuel
格式: Artigo
語言:Inglês
出版: National Academy of Sciences 2013
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3831495/
https://ncbi.nlm.nih.gov/pubmed/24145442
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1314177110
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