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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Ferrata Storti Foundation 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5830397/
https://www.ncbi.nlm.nih.gov/pubmed/29269525
http://dx.doi.org/10.3324/haematol.2017.176131

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5830397/
https://www.ncbi.nlm.nih.gov/pubmed/29269525
http://dx.doi.org/10.3324/haematol.2017.176131

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