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Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.
To investigate the molecular basis of the phenotypic heterogeneity in congenital erythropoietic porphyria, the mutations in the uroporphyrinogen III synthase gene from unrelated patients were determined. Six missense (L4F, Y19C, V82F, V99A, A104V, and G225S), a nonsense (Q249X), a frameshift (633ins...
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| Publicado no: | J Clin Invest |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Clinical Investigation
1995
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295583/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7860775/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117742 |
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