Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients

Background: The heme biosynthesis (HB) involves eight subsequent enzymatic steps. Erythropoietic protoporphyria (EPP) is caused by loss-of-function mutations in the ferrochelatase (FECH) gene, which in the last HB step inserts ferrous iron into protoporphyrin IX (PPIX) to form heme. Aim and method:...

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Detalles Bibliográficos
Autores principales: Granata, Francesca, Brancaleoni, Valentina, Barman-Aksözen, Jasmin, Scopetti, Margherita, De Luca, Giacomo, Fustinoni, Silvia, Motta, Irene, Di Pierro, Elena, Graziadei, Giovanna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Physiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9340544/
https://www.ncbi.nlm.nih.gov/pubmed/35923227
http://dx.doi.org/10.3389/fphys.2022.886194

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