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Abnormal Mitoferrin-1 Expression in Patients with Erythropoietic Protoporphyria

OBJECTIVE: Most patients with erythropoietic protoporphyria (EPP) have deficient ferrochelatase (FECH) activity due to changes in FECH DNA. We evaluated seven patients with EPP phenotype in whom abnormalities of FECH DNA were not found by conventional analysis. The major focus was mitoferrin-1 (MFRN...

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Detalhes bibliográficos
Main Authors: Wang, Yongming, Langer, Nathaniel B., Shaw, George C., Yang, Guang, Li, Liangtao, Kaplan, Jerry, Paw, Barry H., Bloomer, Joseph R.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3143264/
https://ncbi.nlm.nih.gov/pubmed/21627978
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.exphem.2011.05.003
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