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: T...

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Autores principales:	Francesca Granata, Valentina Brancaleoni, Jasmin Barman-Aksözen, Margherita Scopetti, Giacomo De Luca, Silvia Fustinoni, Irene Motta, Elena Di Pierro, Giovanna Graziadei
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Frontiers Media S.A. 2022-07-01
Colección:	Frontiers in Physiology
Materias:	heme biosynthesis porphyria erythropoietic protoporphyria digital PCR ALAS2 gene
Acceso en línea:	https://www.frontiersin.org/articles/10.3389/fphys.2022.886194/full
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