Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria

Accumulation of protoporphyrin IX (PPIX) and Zn-PPIX, are the clinical hallmarks of protoporphyria. Phenotypic expression of protoporphyria is due to decreased activity of ferrochelatase (FECH) or to increased activity of aminolevulinic acid synthase (ALAS) in red blood cells. Other genetic defects...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab
Main Authors: Phillips, John, Farrell, Collin, Wang, Yongming, Singal, Ashwani K., Anderson, Karl, Balwani, Manisha, Bissell, Montgomery, Bonkovsky, Herbert, Seay, Toni, Paw, Barry, Desnick, Robert, Bloomer, Joseph
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7328821/
https://ncbi.nlm.nih.gov/pubmed/30391163
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2018.10.005
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