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CALVILLO , Michaela

Last name: CALVILLO

First name: Michaela

2018 (v1)

Publication

Metadata-only

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

Bottega, Roberta Nicchia, Elena Cappelli, Enrico

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...

Uploaded on: March 27, 2023