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

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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Bibliographic Details
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: Online
Language:English
Published: John Wiley and Sons Inc. 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694132/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694132/

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