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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: Ferrata Storti Foundation 2018
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Article
Acesso em linha: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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