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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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| Опубликовано в: : | Hum Mutat |
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| Главные авторы: | , , , , |
| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
BlackWell Publishing Ltd
2015
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| Предметы: | |
| Online-ссылка: | 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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