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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Mol Genet Genomic Med
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2015
Schlagworte:
Method
Online Zugang: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
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!

Ähnliche Einträge