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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Detalhes bibliográficos
Main Authors: Blouin, Jean-Marc, Duchartre, Yann, Costet, Pierre, Lalanne, Magalie, Ged, Cécile, Lain, Ana, Millet, Oscar, de Verneuil, Hubert, Richard, Emmanuel
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2013
Assuntos:
Biological Sciences
Acesso em linha: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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