Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia

Fanconi anemia is a rare disease characterized by congenital malformations, aplastic anemia, and predisposition to cancer. Despite the consolidated role of the Fanconi anemia proteins in DNA repair, their involvement in mitochondrial function is emerging. The purpose of this work was to assess wheth...

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Detaylı Bibliyografya
Yayımlandı:Haematologica
Asıl Yazarlar: Bottega, Roberta, Nicchia, Elena, Cappelli, Enrico, Ravera, Silvia, De Rocco, Daniela, Faleschini, Michela, Corsolini, Fabio, Pierri, Filomena, Calvillo, Michaela, Russo, Giovanna, Casazza, Gabriella, Ramenghi, Ugo, Farruggia, Piero, Dufour, Carlo, Savoia, Anna
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Ferrata Storti Foundation 2018
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5830397/
https://ncbi.nlm.nih.gov/pubmed/29269525
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2017.176131
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