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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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Bibliografski detalji
Izdano u:Mol Genet Metab
Glavni autori: Weiss, Yedidyah, Chen, Brenden, Yasuda, Makiko, Nazarenko, Irina, Anderson, Karl E., Desnick, Robert J.
Format: Artigo
Jezik:Inglês
Izdano: 2018
Teme:
Online pristup: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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