Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome

The ubiquitously expressed iron storage protein ferritin plays a central role in maintaining cellular iron homeostasis. Cytosolic ferritins are composed of heavy (H) and light (L) subunits that co-assemble into a hollow spherical shell with an internal cavity where iron is stored. The ferroxidase ac...

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Detaylı Bibliyografya
Asıl Yazarlar: Cozzi, Anna, Santambrogio, Paolo, Privitera, Daniela, Broccoli, Vania, Rotundo, Luisa Ida, Garavaglia, Barbara, Benz, Rudolf, Altamura, Sandro, Goede, Jeroen S., Muckenthaler, Martina U., Levi, Sonia
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: The Rockefeller University Press 2013
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3754865/
https://ncbi.nlm.nih.gov/pubmed/23940258
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1084/jem.20130315
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