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BRCA1 Exon 11, a CERES (Composite Regulatory Element of Splicing) Element Involved in Splice Regulation

Unclassified variants (UV) of BRCA1 can affect normal pre-mRNA splicing. Here, we investigate the UV c.693G>A, a “silent” change in BRCA1 exon 11, which we have found induces aberrant splicing in patient carriers and in vitro. Using a minigene assay, we show that the UV c.693G>A has a strong e...

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Detalhes bibliográficos
Main Authors: Tammaro, Claudia, Raponi, Michela, Wilson, David I., Baralle, Diana
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4139890/
https://ncbi.nlm.nih.gov/pubmed/25056543
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms150713045
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