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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Bibliografiske detaljer
Udgivet i:Haematologica
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Ferrata Storti Foundation 2018
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Article
Online adgang: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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