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SVA retrotransposon insertion in exon of MMR genes results in aberrant RNA splicing and causes Lynch syndrome
Lynch syndrome is an autosomal dominant hereditary cancer syndrome in which many cancers develop, the main one being colorectal cancer. Germline pathogenic variants in one of four mismatch repair (MMR) genes are known to be causative of this disease. Accurate diagnosis using genetic testing can grea...
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| Pubblicato in: | Eur J Hum Genet |
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| Autori principali: | , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Springer International Publishing
2020
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8115629/ https://ncbi.nlm.nih.gov/pubmed/33293698 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-00779-5 |
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