Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes

INTRODUCTION: The underlying pathogenic mechanism of a large fraction of DNA variants of disease-causing genes is the disruption of the splicing process. We aimed to investigate the effect on splicing of the BRCA2 variants c.8488-1G > A (exon 20) and c.9026_9030del (exon 23), as well as 41 BRCA2...

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Main Authors: Acedo, Alberto, Sanz, David J, Durán, Mercedes, Infante, Mar, Pérez-Cabornero, Lucía, Miner, Cristina, Velasco, Eladio A
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2012
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3446350/
https://ncbi.nlm.nih.gov/pubmed/22632462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/bcr3202
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