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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694132/
https://www.ncbi.nlm.nih.gov/pubmed/26740942
http://dx.doi.org/10.1002/mgg3.160

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