Characterization of human frataxin missense variants in cancer tissues

Human frataxin is an iron binding protein involved in the mitochondrial Fe-S clusters assembly, a process fundamental for the functional activity of mitochondrial proteins. Decreased level of frataxin expression is associated with the neurodegenerative disease Friedreich ataxia. Defective function o...

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Bibliografski detalji
Izdano u:Hum Mutat
Glavni autori: Petrosino, Maria, Pasquo, Alessandra, Novak, Leonore, Toto, Angelo, Gianni, Stefano, Mantuano, Elide, Veneziano, Liana, Minicozzi, Velia, Pastore, Annalisa, Puglisi, Rita, Capriotti, Emidio, Chiaraluce, Roberta, Consalvi, Valerio
Format: Artigo
Jezik:Inglês
Izdano: 2019
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6744310/
https://ncbi.nlm.nih.gov/pubmed/31074541
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23789
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