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A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA
About 10% of all breast cancers arise from hereditary mutations that increase the risk of breast and ovarian cancers; and about 25% of these are associated with the BRCA1 or BRCA2 genes. The identification of BRCA1/BRCA2 mutations can enable physicians to better tailor the clinical management of pat...
Autores principales: | Esposito, Maria Valeria, Nunziato, Marcella, Starnone, Flavio, Telese, Antonella, Calabrese, Alessandra, D’Aiuto, Giuseppe, Pucci, Pietro, D’Aiuto, Massimiliano, Baralle, Francisco, D’Argenio, Valeria, Salvatore, Francesco |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5187945/ https://www.ncbi.nlm.nih.gov/pubmed/28009814 http://dx.doi.org/10.3390/ijms17122145 |
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