Functional Classification of BRCA2 DNA Variants by Splicing Assays in a Large Minigene with 9 Exons

Numerous pathogenic DNA variants impair the splicing mechanism in human genetic diseases. Minigenes are optimal approaches to test variants under the splicing viewpoint without the need of patient samples. We aimed to design a robust minigene construct of the breast cancer gene BRCA2 in order to inv...

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Vydáno v:Hum Mutat
Hlavní autoři: Acedo, Alberto, Hernández-Moro, Cristina, Curiel-García, Álvaro, Díez-Gómez, Beatriz, Velasco, Eladio A
Médium: Artigo
Jazyk:Inglês
Vydáno: BlackWell Publishing Ltd 2015
Témata:
Research Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4371643/
https://ncbi.nlm.nih.gov/pubmed/25382762
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22725
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