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The complexity of screening PMS2 in DNA isolated from formalin-fixed paraffin-embedded material
Germline variants in the DNA mismatch repair (MMR) gene PMS2 cause 1–14% of all Lynch Syndrome cancers. Correct variant analysis of PMS2 is complex due to the presence of multiple pseudogenes and the occurrence of gene conversion. The analysis complexity increases in highly fragmented DNA from forma...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer International Publishing
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7028990/ https://ncbi.nlm.nih.gov/pubmed/31616036 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-019-0527-x |
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