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Porphyria Cutanea Tarda and Hepatoerythropoietic Porphyria: Identification of 19 Novel Uroporphyrinogen III Decarboxylase Mutations
Porphyria Cutanea Tarda (PCT) is a hepatic cutaneous porphyria due to the hepatic inhibition of the heme biosynthetic enzyme uroporphyrinogen decarboxylase (UROD), and can occur either in the absence or presence of an inherited heterozygous UROD mutation (PCT subtypes 1 and 2, respectively). A heter...
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| Publicado no: | Mol Genet Metab |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8132452/ https://ncbi.nlm.nih.gov/pubmed/30514647 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2018.11.013 |
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