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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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Detaylı Bibliyografya
Asıl Yazarlar: Wang, Yongming, Langer, Nathaniel B., Shaw, George C., Yang, Guang, Li, Liangtao, Kaplan, Jerry, Paw, Barry H., Bloomer, Joseph R.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2011
Konular:
Online Erişim: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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