Article
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia.
Haematologica - 1 Mar 2018
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
Abstract excerpt
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 whether the mitochondrial phenotype, independent of genomic integrity, could correlate with patient phenotype. We...
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