Identification of point mutations and large intragenic deletions in Fanconi anemia using next‐generation sequencing technology

Fanconi anemia (FA) is a rare bone marrow failure disorder characterized by clinical and genetic heterogeneity with at least 17 genes involved, which make molecular diagnosis complex and time‐consuming. Since next‐generation sequencing technologies could greatly improve the genetic testing in FA, we...

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Bibliografske podrobnosti
izdano v:Mol Genet Genomic Med
Main Authors: Nicchia, Elena, Greco, Chiara, De Rocco, Daniela, Pecile, Vanna, D'Eustacchio, Angela, Cappelli, Enrico, Corti, Paola, Marra, Nicoletta, Ramenghi, Ugo, Pillon, Marta, Farruggia, Piero, Dufour, Carlo, Pallavicini, Alberto, Torelli, Lucio, Savoia, Anna
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2015
Teme:
Method
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4694132/
https://ncbi.nlm.nih.gov/pubmed/26740942
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.160
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