Fast Detection of a BRCA2 Large Genomic Duplication by Next Generation Sequencing as a Single Procedure: A Case Report

The aim of this study was to verify the reliability of a next generation sequencing (NGS)-based method as a strategy to detect all possible BRCA mutations, including large genomic rearrangements. Genomic DNA was obtained from a peripheral blood sample provided by a patient from Southern Italy with e...

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Bibliografiske detaljer
Udgivet i:Int J Mol Sci
Main Authors: Nunziato, Marcella, Starnone, Flavio, Lombardo, Barbara, Pensabene, Matilde, Condello, Caterina, Verdesca, Francesco, Carlomagno, Chiara, De Placido, Sabino, Pastore, Lucio, Salvatore, Francesco, D’Argenio, Valeria
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2017
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5713453/
https://ncbi.nlm.nih.gov/pubmed/29165356
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms18112487
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