Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology

Fanconi anemia is an inherited disease characterized by congenital malformations, pancytopenia, cancer predisposition, and sensitivity to cross-linking agents. The molecular diagnosis of Fanconi anemia is relatively complex for several aspects including genetic heterogeneity with mutations in at lea...

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Main Authors: De Rocco, Daniela, Bottega, Roberta, Cappelli, Enrico, Cavani, Simona, Criscuolo, Maria, Nicchia, Elena, Corsolini, Fabio, Greco, Chiara, Borriello, Adriana, Svahn, Johanna, Pillon, Marta, Mecucci, Cristina, Casazza, Gabriella, Verzegnassi, Federico, Cugno, Chiara, Locasciulli, Anna, Farruggia, Piero, Longoni, Daniela, Ramenghi, Ugo, Barberi, Walter, Tucci, Fabio, Perrotta, Silverio, Grammatico, Paola, Hanenberg, Helmut, Della Ragione, Fulvio, Dufour, Carlo, Savoia, Anna
Format: Artigo
Jezik:Inglês
Izdano: Ferrata Storti Foundation 2014
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Articles
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4040906/
https://ncbi.nlm.nih.gov/pubmed/24584348
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2014.104224
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