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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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| Publicat a: | Mol Genet Metab |
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| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2018
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| Matèries: | |
| Accés en línia: | 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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