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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Mol Genet Metab
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2018
Témata:
Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky