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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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Dades bibliogràfiques
Publicat a:Mol Genet Metab
Autors principals: Weiss, Yedidyah, Chen, Brenden, Yasuda, Makiko, Nazarenko, Irina, Anderson, Karl E., Desnick, Robert J.
Format: Artigo
Idioma:Inglês
Publicat: 2018
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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